Case 1 Part 1



Facilitator’s Guide

I Want to be a Good Boy

Problem-Based Learning

Block 8, Case 1

January 30 and February 3, 2012

The learning objectives of this PBL for the medical students are:

1. Describe the normal milestones for early childhood motor, speech, language, and social development.

2. Generate a set of hypotheses regarding etiology of variations from the normal developmental milestones.

3. Describe the effects of nicotine, cocaine, and alcohol on embryologic and post-natal growth and development.

4. Know the critical periods during embryonic development of the brain and face when teratogenic agents are likely to cause abnormalities.

5. Identify important postnatal environmental factors that might impact a child’s early development.

Tutor Introduction

Welcome to the last PBL case of Block 8. This week of the curriculum addresses the theme of “Nature or Nurture” and uses Fetal Alcohol Syndrome (FAS) as an exemplar clinical case. FAS was selected as it is a disorder that students will likely encounter, and as it enables teaching about the basic sciences of embryology, neuroanatomy, brain development, and epidemiology, as well as other important clinical topics such as ethics and law, complex differential diagnosis in children, counseling and health behavior.

This case unfolds as a school-aged child with physical features and learning and behavior problems possibly attributable to prenatal alcohol exposure presents in the emergency room with a cut on his forehead. The patient’s physical injury is relatively minor, and the students should be questioning what else might be going on with this impulsive and inattentive 8-year old boy.

Note on terminology:

Fetal Alcohol Syndrome (FAS), represents the most severe consequence of prenatal alcohol exposure, and is defined by a characteristic pattern of facial anomalies, growth retardation, and central nervous system dysfunction. However, many exposed individuals may not exhibit all the features of FAS, and instead meet criteria for a related disorder, such as Partial FAS or Alcohol Related Neurodevelopmental Disorder. The entire continuum of effects is referred to under the rubric of Fetal Alcohol Spectrum Disorders (FASDs). In this guide, the term FAS will be used when referring to that specific diagnosis, whereas FASDs will be using when referring to the entire spectrum of effects.

Day 1, Part 1

Joey, an eight-year-old Euro-American male, is brought to the Emergency Department at UCLA by his mother, Ms. Randell, for a laceration to his forehead. You are the third year medical student on pediatrics when Joey arrives. Your resident asks you to get the history and do an initial exam.

Vital signs:

Temp: 37.3( C; Pulse: 108; Respiration Rate: 20

When you enter the exam area, you find an 8-year-old boy with a bloody bandage on his forehead. Although he is 8 years old, he appears more like a 6-year-old in size and behavior. Joey does not appear to be overtly scared or upset by his injury, and is very active in the exam room. As you approach Joey, you observe that he is very friendly, as he runs up to you and immediately throws his arms around you. You ask Joey some questions in order to assess his orientation and level of consciousness. Although he is alert, his speech is hard to understand, and he has difficulty giving you much detail on how he hurt himself. Ms. Randell appears a little embarrassed by Joey’s behavior, and says that Joey is always like this: very loud, outgoing, and “running around all over the place.” She agrees that although he is very talkative, it’s often hard to understand what he’s trying to say. You examine Joey and find a superficial 2-inch-long laceration just above the right eyebrow. The laceration is not deep and has clean margins.

Day 1, Part 1 (continued)

You are a little concerned about how close the cut is to his eye, but on your exam Joey’s pupils are equal, round and responsive to light (PERRL) and extraocular movements are intact (EOMI). The rest of his exam is normal. You ask about how he got injured and Ms. Randell tells you that Joey was jumping on his bed at home, fell off the bed, and cut his head on a sharp edge of the metal frame of the bed. She says in some exasperation that she reprimanded Joey for jumping on his bed just the day before, explaining to him that he could hurt himself. “He just doesn’t learn.” She adds that Joey is clumsy and constantly tripping and falling. When questioned, Ms. Randell reports that Joey did not vomit or have any period of unconsciousness following the accident, but that he did state that his head hurt.

Ms. Randell is quite talkative while you are examining Joey, telling you that she is very frustrated with and concerned about Joey. “He has been a problem since the day he was born. He’s always been extremely active and impulsive and seems to have no regard for danger. As an example she says that just last week, a car almost hit him when he ran across the street because he saw a dog he wanted to play with. Joey is constantly getting into trouble at school, as he is often disruptive to other students and can’t pay attention or sit still in class. Joey’s teacher has commented that he does not follow directions, and that he will know something one day, and then seems to have completely forgotten it the next day. Joey will often go up to children he doesn’t know and try to play with them, sometimes grabbing or hugging them to get their attention. Ms. Randell sighs, and says that Joey “tries to be a good boy”, but he doesn’t seem to feel remorseful when he’s done something wrong, and will do the same thing over and over, even after he’s gotten in trouble.

Day 1, Part 2

You start to wonder if there is something more seriously wrong with Joey. It is quiet for the moment in the ED so you ask for a bit more history. Ms. Randell is eager to talk. She tells you Joey was asked to leave two different preschools because of his behavior. He has been receiving special education services for the last 2 years, but is still not making much progress in school. Joey has been seen by a psychiatrist who prescribed several different medications (most recently Concerta), but none of them have been very effective. Ms. Randell is very frustrated and feels that something is going on with Joey that everyone is missing. Because of his continuing problems in school, Joey’s pediatrician referred him to a psychologist and speech and language therapist for testing, and Ms. Randell will be receiving the results of that evaluation in the next week. She also indicates that Joey will be having a hearing test next week.

Ms. Randell starts to cry. “Maybe this is my fault. I don’t think I have always been a good mother.” She tells you that she has had problems with depression since she was a teenager, and was quite depressed prior to and during her pregnancy with Joey. She was even more depressed after Joey was born, and frequently slept several hours a day, leaving Joey crying in his crib for long periods of time. She feels that she and Joey never really bonded. Ms. Randell became even more depressed when her 3rd child, Dee Dee, died when she was 1 year old due to a cardiac defect. Ms. Randell never got any treatment for her depression (either medication or psychotherapy) until after Joey’s sister died and she began seeing a therapist.

Day 1, Part 3

The pediatric resident listens to you present this much of the case. She says the case doesn’t quite make sense and she is concerned about whether Joey is getting appropriate medical care. She asks you to go back and get some more history.

Past Medical History: Joey fell off bike at 7 years old, required stitches in his forehead. Joey broke his arm 4 months ago after falling down the stairs.

Past Psychiatric History: Previous diagnoses of ADHD and Oppositional Defiant Disorder (ODD) from his pediatrician.

Medications: Concerta 72 mg a day was started 3 months ago, but medication does not seem to be effective.

Prenatal and Perinatal History: Ms. Randell reports that Joey is her 2nd child, born when she was 32 years old and her ex-husband was 37 years old. You have located Joey’s birth records in the electronic medical records and see that Ms. Randell reported tobacco use during pregnancy, but denied drug use. These records indicate a full term birth (gestational age of 40 weeks) with 4-hour labor, vertex delivery. Birth weight of 4 lbs, 12 oz., birth length of 18 inches; Apgar scores of 71 and 95. He is noted to have been irritable as an infant, and had a brief period of failure to thrive.

Development: Ms. Randell indicates that Joey sat up at 9 months, stood at 15 months, walked at 20 months; he has always been clumsy. His first word was at 18 months, and he began using 2-3 word phrases at 30 months. She says Joey has always been difficult to understand when he speaks. He still has difficulty dressing himself, particularly with buttons, and with getting his shoes on the correct feet.

Nutrition: Ms. Randell says Joey likes a variety of foods. He eats 3-4 meals/day, and his milk intake is three 6 oz. glasses a day. Although he eats well, mother notes that he doesn’t seem to gain weight like other children.

Social History: Joey lives with his mother and his 12 year old brother, Johnny. Mother and father have been divorced for 2 years. Mother is an attorney; father is the CEO of a large corporation.

Day 1, Part 4

Family Medical History: Younger sister, Dee Dee, had significant medical problems from birth. She was born quite small at 38 weeks, and died of a cardiac defect when she was 1 year old. Older brother, Johnny, also is small for his age, and consequently was worked up for an endocrine problem, but no explanation was found for his growth problems. Maternal grandfather died at 48 of liver disease.

Family Psychiatric History: Mother reports a history of depression. Father is reported to have a history of alcoholism. Older brother has also been diagnosed with ADHD and is in special education.

Physical Exam: Small 8-year-old male. Weight: 18 kg, height: 116.5 cm

Skin: Clear, without rashes.

HEENT: Normal shaped head; OFC 49 cm.

PERRL, EOMI, red reflex bilaterally, conjunctiva clear, sclera anicteric, fundi not well visualized.

Eyes appear widely spaced, myopia.

Ears pearly gray tympanic membranes.

Nares without discharge. Nasal bridge depressed.

Philtrum smooth. Thin upper lip.

Oropharynx clear. Poor dentition, small wide-spaced teeth. High arched palate.

Neck: Supple, small cervical nodes anteriorly.

Chest: Clear breath sounds bilaterally.

Cardiac: Regular rate and rhythm, soft murmur suggesting atrial septal defect, Pulses 2+ throughout.

Abd: Soft, nontender, no masses or hepatosplenomegaly. Positive bowel sound throughout.

GU: Normal male genitalia, uncircumcised. Testes descended bilaterally.

Neuro: Clumsy, unsteady gait; poor fine motor control. Sensation appears normal. Reflexes brisk and symmetric throughout.

Day 1, Part 5

Something about the pattern of problems in Ms. Randell’s three children reminds you of some slides you saw in embryology. You ask Ms. Randell about her general health habits during her pregnancy with Joey, and then ask about her use of caffeine, tobacco, alcohol, and illicit substances, both before she realized and after she realized she was pregnant. Ms. Randell states that she only drank decaffeinated beverages once she knew she was pregnant, but smoked approximately ¼ a pack a day throughout her pregnancy. She reluctantly states that, before she knew she was pregnant, she drank martinis and Long Island Iced Teas with her husband and their friends on weekends. She typically drank 4-5 drinks at any one time, although occasionally she’d have as many as 6 drinks at a time. During the week, she’d have 1-2 drinks at business lunches, and 1-2 glasses of wine with dinner. Once she found out she was pregnant, about 8 weeks into her pregnancy, she switched to only wine. “I would never have more than 2-3 glasses at a time, and I only drank a few times a week.” She states that although her sister was worried about her drinking during her pregnancy, she asked her doctor about it, and he had said it was fine to have wine occasionally after the first trimester to help her relax. Ms. Randell also notes that she used cocaine on a few occasions before learning she was pregnant, but stopped as soon as she found out she was pregnant.

You ask Ms. Randell about her current use of alcohol and other substances, and she states that she has not used cocaine since learning she was pregnant with Joey, and no longer smokes cigarettes or drinks any alcohol. She relates that after Joey’s sister died, she began seeing a therapist. When her therapist expressed concerns about her drinking, she began attending AA. Ms. Randell has been sober for 2 years.

Day 1, Part 6

Learning Issues for this case

Two people in the groups will engage in a Debate topic. They will each write 500 to 700 words with two citations in support of, or in opposition to, the following statement:

Resolved: It is safe for women to drink alcohol during pregnancy.

The rest of the group will use the SAGE format to write up their learning issues, being sure to include the following:

1. Etiology : examine evidence for specific genetic and environmental contributions to the presenting situation or one of the potential diagnoses

2. Treatment: research pharmacological and psychosocial options

3. Epidemiology: describe what is known of the incidence and prevalence of one of the potential diagnoses, or how this could be prevented

Day 2, Part 1

Ms. Randell returns to the pediatric clinic a week later, as you had arranged, to have Joey’s stitches removed. She tells you that the results of his hearing test were normal. She also brings you the report from the psychological and speech and language evaluations.

IQ testing, using the Wechsler Intelligence Scale for Children, 4th edition (WISC-IV), revealed that Joey has a Full Scale IQ of 83, with significant deficits noted in his verbal comprehension and reasoning, working memory, and numerical concepts.

Joey’s adaptive functioning, as measured by the Vineland Adaptive Behavior Scales, 2nd edition (Vineland- II), is substantially below age level (Adaptive Behavior Composite Age Equivalent = 3 years, 9 months; Adaptive Behavior Composite Standard Score = 64).

Speech and language testing revealed that he has significant problems with articulation, and that he also meets criteria for a Mixed Receptive-Expressive Language Disorder because of his marked impairments in both understanding what’s being communicated to him (Receptive) and expressing his ideas to others (Expressive).

Background for Tutors:

The WISC-IV is a standardized intelligence test that assesses the cognitive abilities of children 6 years, 0 months through 16 years, 11 months. It yields a Full Scale IQ, a measure of the child’s general intellectual ability, as well as Index scores in more specific domains (Verbal Comprehension, Perceptual Reasoning, Working Memory, and Processing Speed). Both the Full Scale IQ and the Index Scores have a M = 100 and an SD = 15. Joey’s Full Scale IQ score of 83 (13th percentile) places him in the borderline range of intellectual functioning. Joey’s IQ testing reveals some significant cognitive impairments (notably in verbal comprehension and reasoning, working memory, and numerical concepts), but he does not meet criteria for mental retardation, as his IQ is not below 70.

The Vineland-II is a standardized instrument used to assess adaptive functioning in individuals from birth through age 90. Adaptive functioning refers to individual’s ability to negotiate developmentally expected tasks of everyday life. The Vineland-II assesses four domains of adaptive functioning: Communication, Daily Living (Self-Help), Socialization, and Motor (for children under 6 years), and also yields an Adaptive Behavior Composite. Index scores in the 4 domains as well as the Adaptive Behavior Composite have a M = 100 and an SD = 15. Joey’s adaptive functioning is significantly delayed, as his Adaptive Behavior Composite Standard Score of 64 places him at the 1st percentile, and he is functioning more than 4 years below age level.

1. ADHD. Joey’s presentation is consistent with ADHD, as indicated by (1) his symptoms of inattention, impulsivity, and hyperactivity that (2) are evident at both home and at school; and (3) these symptoms have been causing impairment prior to the age of 7. It is important to keep in mind, however, that although Joey’s ADHD symptoms may be partly or largely accounted for by his prenatal exposure to alcohol.

2. Oppositional Defiant Disorder. Although Joey exhibits some behavior that could be consistent with a diagnosis of ODD (e.g., does not follow instructions, frequently gets into trouble at school), it is not clear from his mother’s report or his presentation that he is intentionally defiant, or that he exhibits other symptoms of ODD (e.g., often loses temper, argues with adults, deliberately annoys people, blames others for his/her mistakes, easily annoyed by others, angry and resentful, spiteful and vindictive. Children with FASD often have trouble following directions because they do not understand what’s being asked of them. Because of their impairments in executive functioning, they may lack the organizational and planning abilities to problem solve and execute goal-directed behaviors. Difficulty with cause and effect relationships and with anticipating the consequences of their behavior can make them appear unremorseful if they do not understand that their behavior resulted in a particular outcome.

3. Fetal Alcohol Syndrome The 4 criteria for Fetal Alcohol Syndrome include (a) facial dysmorphology (smooth philtrum, thin upper lip, short palpebral fissures); (b) growth retardation (confirmed prenatal or postnatal height and/or weight < 10th percentile); (c) central nervous system dysfunction including structural abnormalities (head circumference (OFC) < 10th percentile or brain abnormalities observed via imagining techniques), neurological problems (e.g., seizures not due to postnatal insult, neurosensory hearing loss), or functional (general cognitive impairment, developmental delay, learning problems, executive functioning deficits, speech and language problems, fine and gross motor deficits, attentional problems and/or hyperactivity, behavioral problems, social skills deficits, mental health problems), and (d) maternal alcohol use during pregnancy.

4. Prenatal exposure to other teratogens, specifically nicotine and cocaine. Studies on prenatal exposure to nicotine have found associations with decreased birth weight & length, even after controlling for exposure to alcohol and other substances. Associations between prenatal nicotine exposure and behavioral problems have also been found, specifically externalizing problems, such as ADHD.

5. Effects of environmental factors, such as early neglect, maternal depression. Although there are prenatal factors that likely largely account for Joey’s presentation, various postnatal factors might also have contributed to or exacerbated his problems. Associations between maternal depression and cognitive impairments, altered prefrontal activity, and reduced attention have been documented in infants (Murray et al., 2006). Child neglect has also been found to negatively impact cognitive, emotional, and linguistic development, and to disrupt the development of emotional regulation, secure attachment relationships, effective peer relationships, and successful adaptation to school. Insecure attachment relationships are associated with a host of negative development outcomes, including impairments in cognitive functioning.

Day 2, Part 2

You use the following screening form to determine if Joey’s presentation warrants a referral to a specialist for an evaluation of Fetal Alcohol Syndrome or another alcohol related disorder.

During this screening you will evaluate the degree to which Joey meets the 4 criteria that are assessed when considering a diagnosis of Fetal Alcohol Syndrome or another alcohol related condition such as Partial FAS or Alcohol Related Neurodevelopmental Disorder. These 4 criteria include:

• Growth deficiency (height and weight)

• Facial dysmorphology

• CNS dysfunction (structural and functional)

• Prenatal exposure to alcohol

Prior to assessing Joey for these features, you will first view a brief video clip demonstrating some of the measurements that are taken when evaluating a child with prenatal exposure to alcohol, and then practice taking these measurements with a partner. The following materials are being provided to assist you in this task:

1. Instructions for measuring palpebral fissure length

2. Growth chart for palpebral fissure length

3. Instructions for rating lip/philtrum

4. Lip/philtrum guide for Caucasian and African American individuals (color handout) from the Diagnostic Guide for Fetal Alcohol Spectrum Disorders (Astley, 2004). [Lip/philtrum guides for other ethnic groups are not yet available.]

5. Growth chart for head circumference

6. Growth chart for height and weight

7. A clear plastic ruler for measuring palpebral fissure length (1 for each student pair)

8. A measuring tape for measuring head circumference (1 for each student pair)

9. Video of excerpt from a dysmorphology exam

Group Exercise

FASDs Screening Form

(Tutor Version with Answers)

Step 1: View brief clip from the video of dysmorphology exam.

Step 2: Practice the following measurements with a partner first.

a. Palpebral fissures:

Following the instructions in Handout #1, measure your partner’s palpebral fissure length (PFL) in millimeters for each eye. Then have your partner measure the PFL for each of your eyes. Record measurements below.

Partner’s left PFL: _______ Partner’s right PFL: _______

Your own left PFL: _______ Your own right PFL: _______

b. Lip and Philtrum:

Following the instructions in Handout #3, use the lip/philtrum guide (Handout #4) to rate each other’s upper lip and philtrum (Ignore the ABC Scale).

Partner’s lip: _______ Partner’s philtrum: _______

Your own lip: _______ Your own philtrum: _______

c. Head circumference or Occipital Frontal Circumference (OFC):

Use the measuring tape to measure each other’s head circumference. Be sure to measure by placing the tape at the widest circumference of the head, with the tape measuring around the broadest part of the forehead (just above the supraorbital ridges) and the occiput of the back of the skull.

Partner’s OFC: _______

Your own OFC: _______

Step 3: Determine and plot Joey’s measurements (Note: In plotting Joey’s measurements, consider him to be 8 years, 0 months old.)

a. Palpebral fissures:

Joey’s left and right PFLs are provided below for you. Using Handout #2, plot Joey’s PFLs and then record in the box provided below (Be sure to use the chart for Birth to 16 years).

Joey’s left PFL: 24.5 mm Joey’s right PFL: 24.0 mm

b. Lip and philtrum:

Following the instructions in Handout #3, use the lip/philtrum guide (Handout #4) to rate Joey’s upper lip and philtrum (Ignore the ABC Scale). Record in the box provided below.

Joey’s lip rating: ? Joey’s philtrum rating: ?

c. Head Circumference or Occipital Frontal Circumference (OFC):

Joey’s OFC is provided below for you. Using Handout #5, plot Joey’s OFC and then record in the box provided below (Be sure to use the right side of the chart for years, not the left side for months).

Joey’s OFC: 49 cm

d. Height and weight (Per the physical exam):

Joey’s height and weight are provided below for you. Using Handout #6, plot Joey’s height and weight, and record in the box provided below.

Joey’s height: 116.5 cm Joey’s weight: 18 kg

Summary of Joey’s measurements:

Facial Features

|Feature |Measurement/Rating |Percentile |

|Left palpebral fissure |24.5 mm. |< 2nd |

|Right palpebral fissure |24.0 mm. |< 2nd |

|Upper lip |5 |NA |

|Philtrum |5 |NA |

Head Circumference

|Dimension |Measurement |Percentile |

|OFC |49 cm. |~2nd |

Growth

|Dimension |Measurement |Percentile |

|Height |116.5 cm. |< 3rd |

|Weight |18 kg. |< 3rd |

Step 4: Based on the above findings and your knowledge of Joey’s history, complete the following:

Facial dysmorphology (check if one or more of the following are present)

YES Short palpebral fissures (< 10th percentile)

YES Thin upper lip (ranking of 4 or 5 on lip/philtrum guide)

YES Smooth, flat philtrum (ranking of 4 or 5 on lip/philtrum guide)

Growth retardation (check box if one or more of the following are present)

YES Height (< 10th percentile)

YES Weight (< 10th percentile)

Central Nervous System dysfunction (check if one or more of the following are present)

YES Structural (including OFC < 10th percentile)

Unknown Neurological (including seizures, neurosensory hearing loss)

YES Functional (including general cognitive deficits, learning problems, executive functioning

deficits, speech and language problems, fine and gross motor deficits, attentional

problems and/or hyperactivity, behavioral problems, social skills deficits, and mental

health problems)

Prenatal exposure to alcohol (check if there is confirmed exposure)

YES Confirmed prenatal exposure to alcohol (e.g., clinical observation, self-report, birth, medical,

adoption, or other records, report from reliable informant)

NO Unknown prenatal exposure to alcohol (neither confirmed presence nor confirmed absence)

Tutors Only: Background on potential Learning Issues

What are normal milestones in postnatal development, and what does Joey’s history tell us about his development in terms of meeting expected milestones?

Although there is a range of normal development, Joey’s milestones are all generally late or at the late end of normal, likely as a function of both his prenatal exposure to alcohol and his early environment. That is, Joey sat up at 9 months (normal: ~ 7-9 months), stood at 15 months (normal: ~ 9-10 months), walked at 20 months (normal: ~ 14 months, although range can be 9-18 months), first word at 18 months (normal: ~ 9-12 months), began using 2-3 word phrases at 30 months (normal: ~ 18-24 months). His self-help skills also are somewhat delayed, as he still have difficulty getting his shoes on the correct feet (normally mastered by ~ 3½ years), and with buttons (normally mastered by ~ 3 years).

What are the possible effects of prenatal exposure to nicotine on development, and how might this information be relevant to Joey’s presentation?

Studies on prenatal exposure to nicotine have found associations with decreased birth weight & length, even after controlling for exposure to alcohol and other substances (e.g., Day et al., 1992). Associations between prenatal nicotine exposure and behavioral problems have also been found, specifically externalizing problems, such as ADHD (Huizink & Mulder, 2006). Although many studies have not controlled for prenatal exposure to alcohol or other substances, used validated diagnostic criteria or adjusted for family psychopathology, there are a few well-designed studies that have found that smoking during pregnancy makes a modest but independent contribution to the prediction of a variety of ADHD symptoms (Linnet et al., 2003). Associations between prenatal tobacco exposure and deficits in cognitive and neurobehavioral functioning have also been documented (see Cornelius & Day, 2000). Although many of these studies have not controlled for exposure to other substances, there are studies that have found links between prenatal tobacco exposure and muscle tone abnormalities (Dempsey et al., 2000) and deficits in visual memory and verbal learning (Cornelius, Richarson, Ryan, & Day, 1999), even after controlling for prenatal exposure to other substances, including alcohol and cocaine.

What are the possible effects of prenatal exposure to alcohol on development, and how might this information be relevant to Joey’s presentation?

Effects of prenatal exposure to alcohol fall into three domains: growth retardation, facial dysmorphology (and other physical abnormalities), and CNS dysfunction.

Growth retardation is usually of prenatal onset (so will see low birth weight); and initially may be more pronounced for height than for weight – children can look rather emaciated, reflecting significantly decreased adipose tissue. There is some evidence that postnatally, the effects of prenatal exposure to alcohol may interact with environmental factors, as growth deficits appear more likely to persist in low-income populations than in more economically advantaged populations.

Characteristic facial dysmorphology consists of three central facial features including short palpebral features (length of eye opening from inner corner to outer corner of eye), flat or indistinct philtrum, thin vermillion border of upper lip. Other secondary facial features associated with prenatal alcohol exposure include maxillary hypoplasia (flattened midface), low nasal bridge, short upturned nose, micrognathia (small chin relative to face). Other physical anomalies (these features can be associated with, but are not unique to FAS): strabismus, ptosis, anti-mongolian slope to eyes, low set ears, poorly formed pinna, mandible hypoplasia, cleft lip, high arched palate, poor dentition (widely spaced teeth), hockey stick crease, simian crease, hypoplastic nails, shortened fifth metacarpal, clinodactyly, campodactyly, feet may have webbing, cardiac problems, renal problems, pectus deformities, scoliosis, fusion of veterbrae, hip dislocation, genital abnormalities (hypospadia, hypoplastic labia, undescended testicles, clitoromegaly), skin anomalies.

Central nervous system deficits can include one or more of the following: (1) microcephaly (OFC < 3rd percentile); (2) structural brain abnormalities, including smaller overall brain volume, abnormalities in the cerebellum, basal ganglia (particularly the caudate nuclei), thinning or complete agenesis of the corpus callosum, hippocampus may show asymmetries in volume. These structures have been found to smaller than normal, even after adjusting for overall smaller brain size; (3) neurological problems (may include seizures, tremors, abnormalities in coordination and/or muscle tone, impaired motor skills, neurosensory hearing loss, or memory loss); or (4) functional problems, including cognitive impairments, developmental delay, executive functioning deficits, learning disabilities, poor academic achievement, language problems, visual-spatial problems, memory problems – these problems may occur even in the presence of a normal IQ. Other learning problems include: failure to learn from experience, poor avoidance learning, inability to anticipate consequences, difficulty understanding cause and effect relationships, overly concrete thinking. May also see attention problems and/or hyperactivity, social skills deficits, mental health problems (although due to the association between alcohol use and psychiatric problems, genetics may also play a role in this association).

What are the possible effects of prenatal exposure to cocaine on development, and how might this information be relevant to Joey’s presentation?

Recent studies on prenatal cocaine exposure have found associations with decreased birth weight and length (Nordstrom-Klee et al., 2002), and head circumference, and in some cases, these findings have persisted even after controlling for alcohol and nicotine exposure (Eyler et al., 1998). Earlier studies have found evidence for withdrawal effects and negative effects on temperament, attention, and IQ, but many of these studies did not control for exposure to alcohol and other substances, and the withdrawal effects described are more consistent with alcohol withdrawal than with cocaine withdrawal. More recent studies that have controlled for prenatal exposure to alcohol have found short-term effects (albeit rather modest in effect size) on measures of neurobehavioral functioning (e.g., Morrow et al., 2001), but it is not clear if these effects persist over time. Cocaine-exposed children have not been followed as extensively or for long as period of time as alcohol-exposed children, and those studies that have followed them suggest that while they certainly can continue to show some problems, those problems do not appear to be nearly as devastating as first predicted, nor as severe as those seen in alcohol exposed children.

How might a teratogen such as alcohol impact critical periods during embryonic development of the brain and face?

The following information is excerpted from Goodlett & Horn (2001):

“Numerous mechanisms have been suggested as contributing to alcohol-induced fetal damage, particularly deficits in brain function, although none of these mechanisms have been established with any certainty…Many actions of alcohol on the developing organism, including the brain, result in cell death. Two general processes of cell death exist, called necrosis and apoptosis…Necrosis occurs when neurons are damaged by a trauma or metabolic injury and typically involves the concurrent death of groups of adjacent cells. Cells undergoing necrosis initially swell and their internal components, or organelles, break down. The cells eventually rupture and spill debris that leads to local inflammation. This inflammation can then result in the death of adjacent cells. Conversely, apoptosis is a form of “cell suicide” that affects only individual cells, leaving adjacent cells intact. (…It is important to note that apoptosis is not always bad for the organism. In fact, elaborately regulated apoptotic cell death is also critical for normal CNS formation during development). During apoptosis, the cell body shrinks, and the DNA in the nucleus becomes condensed before breaking apart into small fragments. The cell’s organelles remain intact, however. Eventually the cell breaks up into several small bodies that are still surrounded by a membrane. These “apoptotic bodies” then are engulfed and destroyed by scavenging cells…A key factor that can induce apoptosis (as well as necrosis) is oxidative stress. This term refers to the consequences of having excess levels of free radicals in the cells. Free radicals are highly reactive molecular fragments that may be formed as by-product of alcohol metabolism… Oxidative stress can induce cell death processes through several mechanisms, including the release of apoptosis-inducing factors…Alcohol can also interfere with the activity of growth factors that regulate cell proliferation and survival. Normal brain development and function require not only neurons, but also non-neuronal cells, called glia, that support the growth and development of the neurons…For example, migration of newly formed neurons to their final location in the development brain requires the presence of cells called radial glia, which serve as elongated cellular “tracks” that direct neurons to their appropriate destinations. Once all neurons have migrated to their final locations, the radial glial cells normally changes into another type of glial cell – star shaped astrocytes. After prenatal alcohol exposure, radial glia may become astrocytes prematurely. As a result, neurons generated toward the end of neuronal migration period, which would normally migrate to outer layers of cerebral cortex, lose their radial glial guides, stop migrating, and end up in abnormal positions.. Another important mechanism through which alcohol adversely affects the structure and function of the developing brain is by interfering with the activity of neurotransmitters…Prenatal alcohol exposure can alter the functions of these neurotransmitter systems, particularly the glutamate and serotonin systems…During brain development, the interaction of glutamate with the NMDA receptor appears to be critical for stabilizing synapses that have been formed during sensory or other behavioral experiences. Developmental alcohol exposure can reduce number and/or function of NMDA receptors both during early development and during subsequent developmental stages. This could play a major role in the cognitive and behavioral deficits associated with FAS…The growth of serotonin-releasing neurons into the brain area that eventually develops into cortex appears to be critical step in cortical development. One mechanism through which alcohol may delay the development of the serotonin system is by interfering with the interactions between developing serotonergic neurons and nearby astrocytes that support the growth and development of those neurons…Neuronal death also can be induced by excess activity of certain neurotransmitters, including glutamate. This phenomenon, which is called excitotoxicity, may also contribute to alcohol-related damage to the developing brain. Under certain conditions, when glutmate interacts with the NMDA receptor, it causes calcium to flow into the signal-receiving neuron…In the fetus, the calcium influx generated at the NMDA receptor is an important signal in neuron development, synapse formation, and mechanisms of learning, all of which are crucial to the brain’s ability to adapt to its environment. Excessive activation of the NMDA receptor, however, can lead to dangerously high calcium accumulation inside the neuron. If sufficiently severe or prolonged, the rise in intracellular calcium can lead to cell death by either apoptosis or necrosis. Conditions of excitotoxicity can occur during withdrawal from high levels of alcohol and may thereby contribute to alcohol-induced damage to the fetal brain, particularly when the mother binge drinks. In these cases, the fetus experiences periods of heavy alcohol exposure, followed by withdrawal episodes. High levels of alcohol acutely inhibit NMDA receptor function. During withdrawal after a binge-drinking episode, however, glutamate stimulation of NMDA receptor activity increases temporarily and may lead to excitotoxicity.”

b) Regarding the effects of prenatal alcohol exposure on the embryonic development of facial features (the following is excerpted from Jones, 2003): “The typical facial features, which to a great extent permit clinical recognition of FAS, are, as is the case with microcephaly and the neurobehavioral abnormalities, a function of the effect of alcohol on early brain development. The short palpebral fissures are an example. From the standpoint of normal embryologic development, the optic vesicles, which develop as evaginations of the neuroepithelium, induce the normal palpebral fissures. Thus, any alteration in frontal brain development that affects the normal outpouching of the optic vesicles could lead to an alteration in the position or size of the palpebral fissure…Similarly, it has been suggested that the long smooth philtrum and thin vermilion of the upper lip are secondary to an alteration in forebrain development, resulting in closely set olfactory placodes and underdeveloped medial nasal processes. In a mouse model, Sulik et al. (1981) found deficient derivatives of the medial nasal processes secondary to early prenatal ethanol infusion. Because the medial nasal processes form the columella, the philtrum, the portion of the alveolar ridge containing the upper incisors, and the anterior portion of the hard palate, they suggested that deficiency of the medial nasal processes leads to fusion of the maxillary process at the midline to form the typical long philtrum, which lacks lateral philtral ridges and the thin vermilion in FAS.” Utilizing this model, it has been demonstrated that neural crest cells are especially sensitive to the effects of embryonic alcohol exposure and that the death of these cells may be responsible for the cranial facial defects in FAS.

What are some aspects of Joey’s postnatal environment that might have an impact on his development? For example, how might Ms. Randell’s history of depression play a role in Joey’s development? What other factors besides maternal depression might be important to think about?

Maternal depression: (The following material is excerpted from: Elgar, McGrath, Waschbusch, Stewart, & Curtis, 2004): “There is ample cause for concern for the health and development of children of depressed mothers. Mood disorders are heritable, affect neuroendocrine and circulatory development during pregnancy, can be incompatible with good parenting behavior, and can cause significant life stress for children. Consequently, living with a depressed parent poses risk for social, psychological, and achievement deficits (Kurstjens & Wolke, 2001). Observational research shows that infants and children of depressed mothers, compared to children of non-depressed mothers, are more fussy, receive lower scores on measures of intellectual and motor development, have more difficult temperaments and less secure attachments to their mothers, react more negatively to stress, show delayed development of self-regulatory strategies, and exhibit poorer academic performance, fewer social competencies, lower levels of self-esteem, and higher levels of behavioral problems (Luoma et al., 2001). Consequently, point prevalence rates of psychiatric disorders among children of depressed parents have been estimated to be 2–5 times above normal: 41–77% (Beardslee et al., 1998).” According to Elgar et al (2004), hypothesized mechanisms that might account for the link between maternal depression and child maladjustment include genetics, in utero environment, disturbances in the attachment relationship, and ineffective child discipline.

Other postnatal factors besides maternal depression: Other postnatal factors to consider include disturbed parent-child and attachment relationships, parental neglect, paternal alcoholism, and medication effects. Other factors that are not clearly documented in Joey’s history, but should be considered, as they are often associated with parental alcohol and substance abuse, include child abuse or exposure to other trauma (e.g., exposure to domestic violence). Empirical data suggest that all of these factors can be associated with some or many of the key features of Joey’s presentation. For example, there is evidence of a link between exposure to marital conflict

or violence and both behavioral problems (see Cummings, 1998) and deficits in cognitive functioning (Rossman, 1998). Similarly, there is also ample research demonstrating links between disturbed attachment relationships and both behavioral problems (Carlson and Sroufe, 1995) and cognitive or academic difficulties (Moss, St. Laurent, & Parent, 1999). Child maltreatment has been found to negatively impact cognitive, social, emotional, and linguistic development, and to disrupt the development of emotional regulation, secure attachment relationships, effective peer relationships, and successful adaptation to school (see Ciccchetti, 2002). Again, although any of these factors is unlikely to account for Joey’s specific constellation of features (growth retardation, facial dysmorphology, and CNS dysfunction), students should nonetheless be considering how they might potentiate the risk conferred by Joey’s prenatal exposure to alcohol and other teratogens. Students may wonder about the role of the father’s alcoholism in Joey’s problems, and in particular how his drinking might have affected Joey’s prenatal and postnatal development. There is no compelling evidence at this point that a father’s alcohol use can directly affect fetal development; however, paternal alcohol use can have an indirect impact prenatally, as women who have partners that drink are twice as likely to drink themselves than women without alcoholic partners, thus increasing the likelihood of prenatal alcohol exposure. With regards to postnatal development, there is evidence for a link between behavior problems and ongoing parental alcohol problems (Fitzgerald et al., 2000). Compared with children of non-alcoholics, children of alcoholics exhibit greater levels of behavior problems (Zucker et al., 1996). These findings have been documented most often in children of alcoholic fathers, but more recently children of alcoholic mothers have also been shown to exhibit higher rates of externalizing behaviors than controls (Fitzgerald et al., 2000). Lastly, students may also consider the effects of Joey’s medication on his development and whether it might account for his growth retardation. Findings regarding the effects of methylphenidate on growth are mixed. Some studies have found no significant effects on growth (Bereket et al, 2005). Other studies have found significant effects on growth (Lisska & Rivkees, 2003; Poulton & Cowell, 2003), although there is some suggestion that in some cases these effects may diminish over time (Rapport & Moffitt, 2002). Although Joey’s medication might have some effect on his growth parameters, this effect would probably be relatively modest and would not account for the degree of Joey’s growth retardation; moreover, his growth deficits appear to predate his being started on medication.

The Debate

The issues of whether there is a safe level of alcohol consumption during pregnancy and whether there are safe periods of exposure during pregnancy are somewhat controversial, although it should be noted the Surgeon General’s most recent advisory (February, 2005) clearly advises women who are pregnant or considering becoming pregnant to abstain from any alcohol consumption. Furthermore, the Surgeon General states that “no amount of alcohol consumption can be considered safe during pregnancy” and that “alcohol can damage a fetus at any stage of pregnancy.”

The following information should be considered in the question regarding whether there is a safe level of alcohol and/or whether there is a safe period during which to consume alcohol during pregnancy.

The degree to which a developing fetus is affected by alcohol can be a function of a number of factors. A simple example is that of maternal age, in that the risk for effects from prenatal alcohol exposure increases with maternal age. Jacobson, Jacobson, Sokol, Chiodo, & Corobana (2004) note that: “Case reports of Caucasian (Abel, 1988) and Native American (May, 1991) multiparous mothers indicate that the incidence of FAS increases with maternal age and parity. In virtually all reported cases, each successive child born to an alcoholic mother was more severely impaired than the previous child if the mother continued to drink during pregnancy. In one laboratory animal experiment in which primiparous rat dams were exposed to equal amounts of alcohol at three ages, alcohol was more likely to be associated with spontaneous abortion and lower birth weight when the pup was born to an older exposed mother (Vorhees, 1988). In contrast, when dams of the same age but different parities (first versus fourth pregnancy) were exposed to the same level of alcohol, alcohol-related birth deficits were as evident in the offspring of primiparous as later-parity dams (Abel and Dintcheff, 1985). Thus, the increased risk of impairment seems to be associated with maternal age rather than number of pregnancies.” The risk for greater impairments associated with increased maternal age may be related to the fact that older mothers will likely metabolize alcohol more slowly. There are also differences in the ability to metabolize alcohol as a function of maternal genetics. Support for pharmacogenetic differences dictated by genetic variations in ethanol metabolism as determinants of susceptibility to alcohol-related effects has been found in both animal and human studies (Goodlett et al., 1990; McCarver, 2001). The mechanism underlying this varying susceptibility may involve genetic differences in ethanol metabolism catalyzed by alcohol dehydrogenase (ADH). ADH isozymes arising from functional variants in the ADH2 gene catalyze the oxidation of ethanol at different rates (for review, Dick & Foroud, 2003).

Several studies have shown that individuals who carry the ADH2*2 or the ADH2*3 alleles are less likely to become alcoholic than those who do not (Dick & Foroud, 2003; Chen et al., 1999; Wall et al., 2003). Furthermore, in individuals of mixed ancestry in the Western Cape Province of South Africa, the ADH2*2 allele was found to be protective against alcohol-related birth defects in alcohol exposed offspring and, in studies of African Americans, the ADH2*3 allele was associated with fewer alcohol-related birth defects and developmental deficits (Jacobson et al., 2000; McCarver et al., 1997). The mechanism of protection may be related to the fact that women with the ADH2*2 and ADH2*3 alleles metabolize alcohol more quickly and efficiently, thereby exposing the fetus to lower blood alcohol concentrations (the fetus is not capable of metabolizing alcohol on its own). Although the observation of the protective effect of certain genotypes has been found to be statistically significant and the direction of the effect is consistent for maternal and offspring genotypes, as well as for offspring growth and development, the magnitude of effects on infant outcome has been found to be relatively small. Thus, the interaction of other environmental and/or genetic factors must be considered as contributors to the varying susceptibility of offspring exposed to ethanol antenatally.

The effects of prenatal alcohol exposure will also vary as function of the level and pattern of alcohol consumption. Binge drinking appears to be particularly harmful to the developing fetus, probably because it’s associated with higher blood alcohol concentrations (BACs). Animal studies demonstrate that higher alcohol doses result in both higher BAC’s and more severe injury to the developing brain. In a study by Bonthius & West (1988), the same total dose of alcohol was administered in two patterns: continuous exposure (24 hours per day) resulting in peak BAC 49mg/dL versus condensed exposure (12 hours per day) resulting in peak BAC of 270 mg/dL. The brain weights of rats in condensed exposure group were significantly lower than brain weights of continuously exposed group. Subsequent study demonstrated that lower daily doses of alcohol resulted in greater brain growth restriction and cell loss than a higher daily lose, if the lower dose was administered in binge like pattern (Bonthius & West, 1990).

In human studies of binge drinking, maternal binge drinking (> 5/occasion) prior to pregnancy recognition was the best predictor of children’s neurobehavioral deficits in attention, memory, cognitive processing and inflexibility in problem solving at age 7.5 years. These children were rated by parents and teachers as having higher levels of behavioral problems (Streissguth et al., 1990), and at age 11, they were classified as having problems with distractibility, restlessness, and lack of persistence (Olson et al., 1992). At age 14, these children were observed to have significant problems with response inhibition and fluctuating attention span (Streissguth et al., 1994). It should be noted that although a binge was considered 5 or more drinks in this and other previous studies, researchers and clinicians are now moving towards considering a binge for pregnant women to be 3 or more drinks per occasion. Although binge drinking appears to be especially problematic for the developing fetus, effects have also been found with drinking at lower levels. Cognitive and growth effects have been found with ½ drink three times per week (Day et al., 2002). Other research (Sood et al., 2001) has demonstrated a link between low levels of drinking (1 drink/week) and behavioral difficulties (e.g., aggression).

Alcohol has different effects on the developing fetus depending on the time of the exposure. Exposure during the 1st trimester is associated with major morphological/structural abnormalities, including the characteristic facial features (which may occur during days 19-21), and cardiac and renal malformations (due to organogensis occuring in weeks 2-8). Exposure during the 2nd trimester is associated with an increased risk of spontaneous abortion. Exposure during the 3rd trimester is associated with growth retardation; this is also a particularly vulnerable period for brain development. However, because central nervous system development occurs throughout pregnancy, there is no “safe” period for alcohol consumption during pregnancy because of potential effects on brain development.

The bottom line is that because the effects of prenatal alcohol exposure can vary as a function of a number of factors (including maternal age, maternal genetics, pattern of alcohol consumption), there is no way to predict with any certainty what is a safe level for any one woman. Thus, the safest approach is to not consume any alcohol at any point during the pregnancy. Moreover, because many pregnancies are unplanned (approximately 50% in the U.S.), and because many women do not realize they are pregnant for several weeks, women of childbearing age are advised to abstain from drinking if they are not using contraception.

Why evaluate for FAS? Isn’t the damage done?

Research indicates that a significant number of health care providers believe that there is little to be gained by identifying a child as having FAS, and in fact the diagnosis is so stigmatizing, that it will be more damaging than helpful. However, evaluation and diagnosis have important implications for intervention: intervention should be tailored according to pattern of cognitive and behavioral deficits typically seen in individuals with FASDs; also individuals with prenatal alcohol exposure may have atypical reactions to pharmacological interventions. There are implications for prognosis: early diagnosis is one of the most important factors in preventing secondary disabilities (e.g., mental health problems, school drop out, juvenile delinquency) in individuals with FASDs.inally, there may be implications for prevention: diagnosing a child with FAS may reduce additional cases of FAS in same family, if education and intervention are provided to family. The incidence of FAS is approximately 2 in 1,000 in the general population; however, in families where one child has already been diagnosed with FAS, the incidence of FAS in subsequent children in the same family is 771 per 1,000 . Moreover, the effects of prenatal alcohol exposure often become more severe with each successive pregnancy (note that although Joey and his older brother both have cognitive and behavioral impairments, his younger sister died of a cardiac defect likely associated with prenatal alcohol exposure).

Interventions for Joey:

▪ Educational: Joey’s Individual Education Program (IEP) may need to modified on the basis of a comprehensive evaluation that would include an assessment of his cognitive, academic, and behavioral functioning. There are also classroom accommodations and teaching strategies that can be helpful to children with FASDs, such as a consistent classroom routine, numerous opportunities for behavioral rehearsal and practice; verbal instructions broken down into small steps; visual cues and aids to accompany verbal instructions. Joey’s teachers and other educational personnel should be educated regarding FASDs.

▪ Speech and language therapy to address Joey’s speech and language delays.

▪ Occupational therapy and/or physical therapy to address Joey’s fine and gross motor problems.

▪ Psychosocial interventions such as a behavioral program at home and school, and social skills training would help address Joey’s behavior and social problems, respectively.

▪ Medication evaluation by a child psychiatrist to address Joey’s ADHD symptoms (e.g., attentional problems, impulsivity, hyperactivity) and other behavioral problems; the treating psychiatrist should be informed of Joey’s prenatal exposure to alcohol (and other substances) and ideally would have experience and expertise in treating children with FASDs.

Interventions for family:

▪ Parent training to assist parents in learning behavioral management strategies that are effective with children with FASDs.

▪ Parent education about FASDs should be provided to Ms. Randell so she can better advocate for Joey and education others working with Joey about FASDs.

▪ Parent support group or an advocacy group such as NoFAS (National Organization on Fetal Alcohol Syndrome: ). Recent studies indicate that parents of children with FASDs are highly stressed and that this stress is predicted by the child’s impairments in behavioral, adaptive, and executive functioning , so addressing both the child’s impairments and providing adequate support for parents is critical.

▪ Education about the risks of prenatal alcohol use should be provided to parents in order to prevent additional alcohol-exposed births; brief intervention for alcohol reduction/cessation and/or referrals for treatment of alcohol abuse or dependency should be provided when indicated.

Until recently, there were virtually no controlled studies on interventions for children with FASDs. However, in 2001, the CDC funded 5 sites across the U.S. to develop and scientifically evaluate interventions for children and adolescents affected by FASDs. Each site designed an intervention to focus on one of the core vulnerabilities found to be associated with FASD both empirically and clinically. At this time, only results from the UCLA site are available. The UCLA site adapted an existing manualized social skills intervention to address the profound social impairments observed in children with FASDs. This focus of intervention was seen as particularly important given the well-documented associations between peer relationship problems and both juvenile delinquency and school drop-out. Results of the randomized controlled study were that children in the treatment group showed a significant improvement in the quality of their play with other children, a greater knowledge regarding appropriate social behaviors, improved overall social skills, and a reduction in problem behaviors compared to the control group. Furthermore, they continued to show improvement at 3-month follow up.

Referral for an evaluation for FAS or another alcohol related disorder is recommended when:

- Confirmed heavy prenatal exposure to alcohol OR

- Confirmed or unknown prenatal exposure to alcohol AND any one of the following:

- All 3 facial features are present or

- One or more facial features are present, along with growth deficits in height and/or weight or

- One or more facial features are present, along with one or more CNS/neurobehavioral deficits or

- CNS/neurobehavioral deficits consistent with prenatal exposure to alcohol (even in absence of facial features and growth deficits)

Should Joey be referred for an evaluation for FAS or another alcohol related disorder and if so, how might this be helpful?

YES, there is ample evidence suggesting he may have FAS (students should have checked all four boxes on their sheet), and he should have a comprehensive evaluation by a specialist with expertise in this area. Such a specialist can assist with both diagnosis and treatment planning. Students should know that early diagnosis and intervention are among the best predictors of a more positive prognosis for individuals with FASDs.

On the right is a mouse pup exposed to 2 large doses of alcohol on gestation day 7 (enough to raise the mother’s blood alcohol level to 200 mg of alcohol per deciliter of blood or equal to approximately 10 drinks of 100 proof alcohol). This time period corresponds to approximately the 3rd week of gestation in humans. This shows what can happen with just two episodes of binge drinking on just one day early in pregnancy. Compare the difference between the mouse pup on the left (not exposed) to the mouse pup on the right (exposed) on the key features. Note the short palpebral fissures, smooth philtrum, and thin upper vermilion in the exposed mouse pup.

Facial features of FAS in the mouse

[pic] [pic]

Adapted from Sulik & Johnston, 1982

In the picture below, compare the child with FAS to the alcohol exposed mouse pup.

[pic]

Jones, KL. (2003). From recognition to responsibility. Birth Defects Research, 67, 13-20.

Kotch, LE, and Sulik, KK. (1992). Experimental fetal alcohol syndrome: Proposed pathogenic basis for a variety of associate craniofacial and brain anomalies. American Journal of Medical Genetics, 44, 168-176.

Streissguth, AP. A long-term perspective of FAS , Alcohol Health & Research World, 18, 74-81, 1994.

Sulik, KK, Johnson, MC, and Webb, MA. (1981). Fetal Alcohol Syndrome: Embryogenesis in a mouse model. Science, 214, 936-938.

Sulik, KK, and Johnston, MC. (1982). Embryonic origin of holoprosencephaly: Interrelationship of the developing brain and face, Scanning Electron Microscopy, 1, 309-322.

[pic]

From: Goodlett, C.R., & Horn, K.H. (2001). Mechanisms of alcohol-induced damage to the developing nervous system. Alcohol Research and Health, 25, 175-184

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I. Students will first extract the salient Facts from the presenting situation. A scribe should type these on the template provided. These should include:

1. He is impulsive (e.g., jumping on the bed, running into the street)

2. He is talkative and has a high activity level (running around all over the place).

3. He has difficulty paying attention in class

4. He is small for age.

5. His speech is hard to understand.

6. He is overly friendly, with poor body boundaries

7. He does not seem to learn from experience.

II. Students will then be expected to start generating Hypotheses. These do not need to be specific diagnoses, although they may be. Encourage students to think more broadly than specific diagnoses when possible. Students should refer back to the facts to support the hypotheses. Likely hypotheses include:

1. ADHD. The fact that Joey shows these behavior problems at both home and school (i.e. across multiple settings) and seems to have shown these problems for a long period of time also would be consistent with ADHD. Students might consider what other symptoms they would be looking for to provide further evidence for this diagnosis. It should be noted that there are a number of hypothesized etiologies for ADHD (e.g., genetics, prenatal exposure to certain teratogens, certain prenatal or postnatal infections).

2. Another reasonable consideration students might have is that Joey has some type of developmental delay (DD) or may even be mentally retarded (MR). His communication problems, difficulties in school, lack of awareness of danger would all be consistent with general developmental delay.

3. Joey’s communication problems may lead students to consider some type of speech/language problem, as well as the possibility that Joey may have a hearing problem.

4. Child abuse would be a reasonable issue to consider given Joey’s presentation (e.g., frequent falls, injuries).

III. Students should also generate an Action Plan. This would focus on the information they need to support their hypotheses and clarify the differential diagnosis. Specifics at this point might include:

1. Early developmental history (were milestones met on time and has he exhibited delays across all areas of functioning or only in specific areas of functioning, such as speech and language)

2. Family history, including any developmental delay or mental retardation in the family.

3. Cognitive and adaptive testing results

4. Hearing or speech testing.

Photo of Joey

IV. Students should start to generate some potential Learning Issues. These should be phrased in the form of a question and should relate to the case. Some examples at this point would be:

1. Does Joey meet the criteria for a diagnosis of ADHD?

2. What are the most likely causes of Joey’s behavior?

Although students are unlikely to consider FAS as a possibility this early in the case (and should not be prompted to consider FAS at this point in the case unless they bring it up on their own), the following aspects of Joey’s presentation are consistent with a diagnosis of FAS:

• He is small for his age (growth deficiency is one of the criteria for FAS)

• His high activity level and poor impulse control (children with FAS are often diagnosed w/ ADHD)

• His difficulty learning from prior experience (jumps on bed despite being reprimanded day before; teacher states he knows something one day, but then forgets it the next day)

• His clumsiness (motor deficits, poor balance and coordination are common in FAS)

• His speech and language problems

• Doesn’t seem remorseful (because of their difficulty understanding cause and effect, children with FAS can seem unremorseful because they don’t recognize the consequences of their own behavior)

• Throwing arms around doctor upon meeting him/ her, and grabbing and hugging other children (lack of social discrimination and poor interpersonal boundaries often seen in children with FAS)

•

Additional Facts:

1. Asked to leave 2 preschools due to behavior

2. Receiving special education services fro 2 years

3. Prescribed Concerta, which did not help

4. Had speech and language and will have hearing testing.

5. Mother was very depressed before, during and after pregnancy, without treatment

Additional Hypotheses:

1. Poor mother-infant bonding

2. Learning disorder

3. Other hypotheses have not been disproved, and some have additional support

Additional Action Plans:

1. Look up Concerta

2. Look up the diagnostic criteria for the most likely diagnoses

Additional Learning Issues:

1. What are the different kinds of speech and language disorders and which seems to best fit Joey?

2. Could Ms. Randell’s depression have had a negative effect on his development? If so, how?

3. If Ms. Randell had taken anti-depressant during the pregnancy, would that have caused developmental problems for Joey?

Additional facts:

1. History of recurrent ear infections

2. Multiple injuries on history

3. Previous diagnoses of ADHD and Oppositional Defiant Disorder

4. Joey is 2nd child

5. Mother smoked cigarettes during pregnancy

6. Weighed 4 lbs 12 oz at 40 weeks

7. Apgar scores of 7 and 9

8. Failure to thrive early on, irritable

9. Sat at 9 month, stood at 15 months, and walked at 20 months

10. First word at 18 months, 2-3 word phrases at 30 months

11. Parents divorced 2 years ago

12. Mother is an attorney

13. Father is a CEO and an alcoholic

Additional hypotheses and support:

1. Support (but not proof) for hypotheses of ADHD

2. Small for gestational age at birth- some prenatal nutritional problem

3. Gross motor and language development were delayed

4. Growth problem despite adequate nutrition- possible malabsorption or endocrine problem

Additional Action Plan:

1. Look up criteria for ODD

2. What is Failure to Thrive?

3. What do Apgar scores mean?

4. What is the usual dose of Concerta?

Additional potential learning issues:

1. Is Concerta an appropriate drug for Joey’s problems? If so, why might it not be working?

2. What causes prenatal growth deficiencies, or being small for gestational age?

3. What are the potential reasons and results of Joey’s early failure to thrive?

4. What is the impact of divorce on young children? Could this account for any of Joey’s problems?

For tutors

Joey was small for a full-term infant. Joey’s motor milestones are delayed. A normally developing child would sit up around 6-7 months, stand around 10-12 months, begin walking around 14 months (although for walking, normal can range from 9-18 months). Should be able to get shoes on correct feet by about 3½ years; buttons should be mastered by around 3 years.

His language milestones are also delayed (a normally developing child’s first words would occur around 9-12 months, 2-3 word phrases at 18-24 months). Articulation should be fairly clear and easy to understand by 5 years old.

Additional Facts

1. Sister had a cardiac defect, brother also has a growth problem and ADHD diagnosis

2. Family history of depression, alcoholism and ADHD

3. Maternal grandfather died at 48 of liver disease

4. Smooth philtrum, thin upper lip, poor dentition

5. Clumsy

Action Plan

Look up any words you don’t understand

For tutors:

Students may note Joey’s delayed growth and small head circumference (although they may not recognize until they plot his growth during Friday’s group exercise). Several aspects of Joey’s physical exam are consistent with prenatal exposure to alcohol (PEA) including a depressed nasal bridge, smooth philtrum, thin upper lip, small widely spaced teeth, high arched palate, heart murmur, poor motor functioning. Additionally, although widely spaced eyes are not necessarily associated with PEA, having short palpebral fissures (which are associated with PEA) can cause the eyes to appear widely spaced. Again, it would be premature to alert students that these features are consistent with Fetal Alcohol Syndrome unless they bring it up on their own, but students should be prompted to consider what aspects of Joey’s physical are noteworthy.

Additional Facts:

1. Mother drank 4 to 6 drinks a day for first 8 weeks of pregnancy

2. Mother drank 2-3 glasses of wine a day, several times a week, during rest of the pregnancy

3. Mother used cocaine in first 8 weeks of pregnancy

Additional Hypotheses and support:

1. Prenatal cocaine exposure led to Joeys’ problems

2. Prenatal alcohol exposure led to Joey’s problems

Additional Action Plan:

1. Look up the diagnostic criteria for fetal alcohol syndrome.

Additional Learning Issues:

1. What is the impact of prenatal exposure to alcohol and cocaine during pregnancy? Could this account for any of Joey’s problems?

2. What is the appropriate treatment for someone like Joey?

Students may be surprised by the revelation that Ms. Randell drank significant amounts of alcohol throughout her pregnancy, and also used some cocaine prior to learning she was pregnant, as birth records had previously indicated Ms. Randell denied any prenatal substance use. Two points should be highlighted here for students:

1) Women may deny alcohol and/or substance use immediately prior to or after delivery, but may be more forthcoming with such information later on.

2) It is common for health care providers not to ask specifically about prenatal alcohol use, either because they are less concerned about it relative to other drug use, or because they assume women interpret questions regarding substance abuse to include alcohol (when in fact women may interpret such questions to only include illicit substances).

The important point here is for students to not assume that information in birth or other medical records regarding prenatal use of alcohol and other substances is always accurate, and this information should always be queried for when obtaining a prenatal history. Moreover, women should be asked about the periods prior to pregnancy recognition and after pregnancy recognition separately, as they may be more likely to acknowledge alcohol and/or other substance use for the period prior to pregnancy recognition. Some research suggests that mothers’ reports of pre pregnancy-recognition drinking are, in fact, more predictive of child outcomes than their report of post pregnancy-recognition drinking.

Students may wonder how common it is for children to be exposed to alcohol during pregnancy. It is important to first consider alcohol use among women of childbearing age because pre-pregnancy drinking status is highly predictive of alcohol use during pregnancy, and because many women don’t immediately realize they’re pregnant (49% of pregnancies in the U.S. are unplanned). When asked whether or not they drank any alcohol in the month before the survey, 53.3% of non-pregnant women in 1999 reported some alcohol consumption (CDC, 2002). With regard to high risk drinking, 11-14% (depending on study) reported binge drinking (CDC, 2002; SAMSHA, 2001). With respect to pregnant women, rates range from 12-14% reporting prenatal alcohol use (CDC, 2002; SAMHSA, 2001), which means about 480,000 to 560,000 of the children born each year have some prenatal exposure to alcohol. By comparison 0.9% of women use crack cocaine during pregnancy. Approximately 3.3-4.6% of pregnant women report frequent alcohol use (defined as > 7 drinks per week and/or > 5 more drinks per drinking occasion), which means that approximately 130,000 – 180,000 of the children born each year have been exposed to significant amounts of alcohol prenatally.

Start the session by having one student present a summary of the case as we know it so far. Use this summary to have a discussion of the current working Hypotheses, eliciting the information from the students. Do not simply have them report on their Leaning Issues, which everyone should have read, but have a discussion of what we know so far.

Hand out Part 1 after they have reviewed the case.

Additional Facts:

1. IQ of 83, with deficits in verbal comprehension, working memory, and numerical concepts.

2. Adaptive functioning is significantly below age level.

3. Troubles with articulation.

4. Mixed receptive and expressive language disorder.

Additional hypotheses or support:

1. Joey’s IQ is not below 70, so he is not mentally retarded, but he does fall in the range of borderline intellectual functioning.

2. His cognitive difficulties could be consistent with a learning disability, although additional information would be needed in order to make that diagnosis (i.e., is his academic achievement significantly below what would be predicted by his IQ?).

3. Notably, Joey’s adaptive functioning is quite low, even lower than would be predicted by his IQ, and he is effectively functioning developmentally at less than half his chronological age

Tutors: Please distribute the handouts, rulers, and measuring tapes prior to viewing the video, so the students can see the instruments that are being used in the video.

1. Review the brief video excerpt on conducting a dysmorphology exam. This video has been loaded onto your laptop computer and can be accessed on the desktop through the folder labeled “I Want to be a Good Boy”; while for those groups assigned to room(s) with computers, materials must be accessed through Angel: .

2. Guide students through the use of the FASDs Screening Form, including practicing measuring each other’s facial characteristics and head circumference and then plotting Joey’s measurements in order to determine if he should be referred for an evaluation for FAS or another alcohol related condition.

3. Pass out the Essential Learning Objectives and use the remaining time to help the group review their understanding based on the work of the week.

1.

Overview of Group Exercise and Video

The goal of the group exercise is to sensitize students to the features of FASDs and to give them some hands-on practice measuring some of those characteristics. It is not expected that students will become expert in assessing FASDs from this one exercise. Ideally, this will be an engaging learning experience for them. Approximately 25 minutes should be allotted for this exercise.

The video clip is brief (approximately 2 min.) and is excerpted from a more comprehensive exam to evaluate a child for features that might be indicative of FAS or another alcohol related condition. The exam is being conducted by Dr. John Graham, a pediatric geneticist and Director of the Division of Clinical Genetics and Dysmorphology at Cedars-Sinai. The video clip presented here focuses on only a short excerpt from the exam, and illustrates how to measure the child’s head circumference (as a possible sign of CNS dysfunction), and how to measure the three key facial features found to be most discriminating for FAS, as this is what the students will be practicing during the group exercise.

Observe that the child being evaluated in the video does not exhibit the full facial features associated with prenatal alcohol exposure (his palpebral fissures are very short, but his upper lip is not thin, and his philtrum is only moderately flat). However, he does exhibit significant growth retardation and CNS dysfunction (microcephaly). He is a good example of a child who may not exhibit all the classic facial features of FAS, but nonetheless has been significantly affected by prenatal alcohol exposure (and in fact would meet criteria for Alcohol Related Neurodevelopmental Disorder rather than FAS).

Note: This video clip is now available to tutors on Angel if they would like to preview it before the Friday PBL session.

Tutors: Please make sure the students return the plastic rulers and measuring tapes to you at the end of the session (they may keep all other materials).

Tutors: If any students become concerned that they have one of the features associated with prenatal alcohol exposure (e.g., a lip or philtrum ranking of 4 or 5), they should be reminded that one feature is not sufficient for a diagnosis. There is a great deal of natural variability in the population – individuals with FASDs show a constellation of features, not one single feature.

Tutors: All answers are provided in boxes on p. 29.

Tutors: The information in the boxes below (highlighted in gray) is provided only to tutors – students must fill in this information as part of the exercise.

Tutors: Answers below are provided only in tutor version – students should complete checklist themselves.

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