Introduction
A prominent locally elected official is bringing her 3-year-old son to a different pediatric medical home for the first time. Brandon is the youngest of her four sons. His previous pediatrician retired, and the mother wants the medical home to care for all four children.
Brandon’s mother states “He has always been very healthy, just a little small for his age but very ‘scrappy’”. His mother brought a copy of his medical records. Many of the notes are handwritten, containing only simple entries such as “growth restricted”, “limited speech”, and “mother declined early intervention”. Brandon’s immunizations are current, and he has had normal hearing screens.
The patient’s mother describes him as a “very busy boy”. When he is awake, he moves from one activity to the next and has quick mood changes. His mother states: “He goes from happy, to sad, to mad, to silly, and back around again all in the blink of an eye. He just likes to keep things interesting.” She also reports that he has difficulty playing games that require him to wait for his turn. The family does not give him multi-step commands because he can only perform the first step.
Brandon’s mother reports that he was a very fussy baby and “never slept”. Brandon was difficult to feed as a baby and remains a “picky eater”. His mother explains that is why he is so skinny. Compared to his three brothers, his mother indicates that his language has always been a bit delayed and justifies the expectation, “That is to be expected when you have older siblings who do the talking for you, right?” His mother confirms that Brandon’s vocabulary is consistently between 25-30 words. She states that the family understands Brandon when he speaks but strangers only understand about 10% of his communications.
Brandon’s mother expresses multiple concerns: Brandon can’t work simple toys (e.g., peg boards, simple puzzles, turning handles), doesn’t speak in sentences, doesn’t understand simple instructions, and doesn’t play make-believe like her other boys did at his age. She indicates that Brandon can run but is “quite clumsy and is always tripping over his own feet.” She also reports that he has a hard time with navigating stairs.
The parents are an intact couple and live in a nice neighborhood. Brandon’s mother jokes that Brandon needs to be tough to be around his older brothers who are ages 10, 8, and 5. The family’s au pair stays with Brandon while his parents are working. Brandon has several play dates scheduled during the week.
Brandon’s mother shared that Brandon’s 10-year-old brother has recently been in trouble at school for taking others’ cellphones and small electronic devices. Her 8-year-old has some sensory issues and wears sound attenuating headphones. The 8-year-old also displays significant anxiety and some symptoms of depression. Her 5-year-old is overly friendly and does not understand social boundaries.
Contributing Factors to an FASD Diagnosis
Key Facts
- 3-year-old with growth restriction (poor weight gain), receptive-expressive language delay, emotional dysregulation, and motor dyscoordination
- Feeding problems
- Normal hearing; immunizations up to date
- Former pediatrician was concerned about child’s development and referred him for early intervention, but the mother declined
- No documented history of prenatal alcohol exposure (PAE)
- All of the child’s siblings have an ongoing medical or behavioral issue
Demographic Information
Male, 3 years
Height: 92 cm (10th percentile)
Weight: 12 kg (5th percentile)
Head Circumference: 47.5 cm (10th percentile)
Birth History
Gestational Age: 39 weeks
Birth Weight: 2485 g (10th percentile)
Birth Length: 40 cm (25th percentile)
Head Circumference: 31.75 cm (<10th percentile)
Small for gestational age at birth
Prenatal Alcohol and Drug Exposure is unknown.
Medical History
Diagnosis/Illness: Small for gestational age
Age at Diagnosis: At birth
Treatment Plan (including medications): Supportive
Pertinent physical examination findings: Failure to thrive, short stature and underweight, but otherwise no cardinal dysmorphic facial features
Developmental History/Concerns
- Motor function (poor suckling, writing skills)
- Attention Deficit Hyperactivity Disorder
- Movement Concerns
- Language Delay
- Self-regulation deficits (difficulty going to sleep, easily overwhelmed, frequent meltdowns, prolonged temper tantrums)
- Memory deficits (poor recall, problems remembering recently learned information)
Relevant Family History
The patient’s 10-year-old brother has recently been getting into trouble at school for taking others’ cellphones and small electronic devices. The patient’s 8-year-old brother has some sensory issues for which he wears sound attenuating headphones, exhibits significant anxiety, and some symptoms of depression. The patient’s 5-year-old brother is overly friendly and does not understand social boundaries.
Living Situation: Married parent household.
Family Strengths: Social Connectedness, knowledge of community support systems, safe home environment.
Pertinent Social History: No concerns.
Psychiatric Diagnoses
- Positive screen for ADHD on Vanderbilt questionnaire
- No known mental illness or behavioral health diagnoses
Provider Plan
- Transfer of care from another pediatrician
- Referrals to OT/PT/ST
- Referrals to a Geneticist for examination and testing, Developmental Pediatrics, Neuropsychologist, and Nutritionist
Considerations for Improving Continuity of Care in the Pediatric Medical Home
Factors Consistent with an FASD Diagnosis
Confirmation of a history of prenatal alcohol exposure is needed to establish a diagnosis of any FASD other than Fetal Alcohol Syndrome, which is a diagnosis based upon clinical findings of the three cardinal facial dysmorphic features, growth impairment, and neurodevelopmental impairments. Brandon has confirmed prenatal and/or postnatal growth deficiency, lower-than-average height and weight, and a smaller head circumference of less than 10th percentile. The pediatric intake documents state that Brandon also exhibits neurodevelopmental impairments in the domains of neurocognitive deficits (including executive function and delays in fine/gross motor and speech), self-regulation problems, and delayed adaptive skills. However, because Brandon lacks the three cardinal features of Fetal Alcohol Syndrome (short palpebral fissures, smooth philtrum, and thin vermillion border), he cannot be diagnosed with FAS.
Thus, in Brandon’s case, while each of the above contributing factors are suggestive of a diagnosis of an FASD, this diagnosis requires a history of prenatal alcohol exposure. As his new pediatrician suspects a diagnosis of an FASD, it is appropriate to screen for family alcohol use and prenatal alcohol exposure and to refer Brandon for a complete FASD assessment. If a history of prenatal alcohol exposure is obtained, a diagnosis of Neurodevelopmental Disorder Associated with Prenatal Alcohol Exposure (ND-PAE) is appropriate.
Genetic testing should also be considered to exclude genetic causes that might present similar to an FASD such as William’s or Noonan’s Syndrome. The constellation of the above clinical findings should allow the pediatrician to begin to discuss this provisional diagnosis with the family, to establish support services, and educate the parents of the specific challenges common to children with an FASD.
View the National Organization on Fetal Alcohol Syndrome (NOFAS) for a searchable directory of all FASD diagnostic clinics in the US. If a multidisciplinary clinic is not available, the pediatric medical home can refer Brandon to specialists (i.e., developmental-behavioral pediatrician, geneticist, and neuropsychologist/psychiatrist). In cases in which specialists are not available, pediatricians should begin the process of ensuring developmental and educational supports are in place to support this neurodevelopmental disability even in the absence of a clear diagnosis.
Review all findings and make a diagnosis. Once a diagnosis is made, the pediatrician becomes the family advocate to convene and coordinate Brandon’s care (including referrals to subspecialists and developmental/educational services as needed), monitoring developmental and medical challenges that need to be addressed. Reassure the family that there are other families with children who have an FASD and guide them to supportive resources such as NOFAS. Many states have NOFAS affiliates that can also serve as resources for parents.
Differential Diagnosis for Care Management
The differential diagnosis of both the dysmorphology and neurobehavioral aspects of an FASD is wide. Diagnosing an FASD requires screening for prenatal alcohol exposure. Prenatal alcohol exposure damages the developing brain and may result in a variety of problem behaviors. Individuals with an FASD may also be diagnosed with co-occurring mental health conditions that are in fact, symptoms of their congenital neurodevelopmental disorder.
FASDs are often characterized as hidden disabilities because the physical abnormalities may not be obvious, but the brain-based challenges of ND-PAE (can be profound, thus children with an FASD can struggle with intellectual disability, often most clearly defined in testing of adaptive function. Many individuals with an FASD are able to converse and interact in superficially appropriate ways. However, they may have much more difficulty in subtle or stressful interpersonal interactions, and they are challenged at maintaining meaningful friendships.
Many children with an FASD present with short attention spans and are easily distracted. Attention deficits in children with an FASD derive from deficiencies in executive functioning skills, short-term memory, information encoding, the ability to shift attention flexibly, and arousal dysfunction. Attention problems associated with an FASD include difficulties regulating sensory stimulation and reduced capacity to inhibit attention to distracting stimuli, making their attention problems different from typical ADHD. Brandon presents with many of these behavioral factors and growth deficits that are associated with an FASD. Despite the subtle differences between ADHD and FASD, treatment for ADHD symptoms can often be effective in behavioral management.
It may be important to consider the involvement of a geneticist who can evaluate an individual for other conditions that may be co-occurring with or mimic an FASD. Specifically, consider Williams, Noonan, 22q deletion syndromes, Trisomy 21, and other fetal medication embryopathies, because some dysmorphology and behavioral features are shared with FASD. For example, children with Williams Syndrome appear to have short palpebral fissures and children with Fetal Valproate Syndrome may have wide-spaced eyes, a long philtrum, and thin upper lip. Pediatricians should strive to determine that no other disorder better explains presenting symptoms.
Consideration of Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE)
Individuals with Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure have neurodevelopmental, neurobehavioral, or mental health effects of prenatal alcohol exposure with or without the physical facial dysmorphia associated with Fetal Alcohol Syndrome. ND-PAE manifests in functional impairments of neurocognition, self-regulation, and adaptive functioning. These impairments lead to significant challenges in social, academic, occupational, or other important areas of functioning, and form the basis of the ND-PAE diagnostic criteria. In this case, Brandon exhibits all of these functional impairments.
Although these broad domains overlap with other disorders of childhood, specific deficits within them are indicative of ND-PAE. View the Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE) special article that includes details in ND-PAE Age Dependent Symptom Diagnosis Guidelines and differential diagnosis Differential Diagnosis for ND-PAE.
Prior to research on ND-PAE, diagnostic schema used the term Alcohol-Related Neurodevelopmental Disorder (ARND). ND-PAE and ARND are overlapping and similar but with a major difference. ND-PAE can be present with or without dysmorphic features whereas ARND is without the presence of full cardinal dysmorphic facial features found in individuals with FAS.
Screening for Prenatal Alcohol Exposure
Screening for prenatal alcohol exposure is an essential function of the primary care medical home and the responsibility of all pediatricians. Screening for prenatal alcohol exposure is a component of health supervision visits for newborns and new patients (Page 343) according to the Bright Futures Guidelines for Health Supervision of Infants, Children, and Adolescents (4th Edition). The AAP has an implementation guide to screen for prenatal alcohol exposure. The guide recommends that all children be screened for prenatal alcohol exposure at least once, ideally when obtaining the prenatal and birth history or, as in this case, when obtaining the new patient history. Early identification of a child at risk for developmental disability because of a positive screen for prenatal alcohol exposure should lead to further evaluation, and when warranted, diagnosis and treatment.
Download the implementation guide that offers an evidence-informed method to determine a history of prenatal alcohol exposure. The implementation guide provides a non-judgmental format for information gathering and conversation between mothers and fathers, families, and pediatricians.
By screening all patients, implicit bias is avoided, and screening becomes routine for pediatricians. Reassure all parents that these questions are asked of all patients and that questions about alcohol are specifically asked because alcohol affects the development of the brain before birth. While a pediatrician may get a negative response when screening for prenatal alcohol exposure, it is common for parents to later return to this discussion and disclose alcohol use during pregnancy. It is especially important that prenatal alcohol exposure screening be completed or revisited in cases where developmental or behavioral concerns arise (as in this case study).
Intervention(s) Recommendations to Support Both Patient and Family
This case study highlights the challenges that arise because of stigma associated with prenatal alcohol exposure. As the mother is an elected official, it is likely that she feels enormous pressure to keep this history secret from the public. Secrecy, shame, and denial are core features of substance use disorder. The pediatrician can help to counter potential negative stigma for the child, parents, and family. Reassure Brandon’s mother of your common goal in caring for her son.
Should this mother struggle with substance use disorder it is important to address this condition to preserve her current life successes and her ability to be the mother she wants to be for her child. Compassionately addressing her potential struggle with substance use disorder may prevent alcohol exposure in future pregnancies. Emphasize that substance use disorder is a disease that can be treated. Pediatricians can offer hope and opportunity for recovery through support and referrals to treatment for this disease and addiction. Encourage the mother and family to seek a supportive organization such as Alcoholics Anonymous.
Further stigma can potentially arise from the diagnostic term “Fetal Alcohol Syndrome” or “Fetal Alcohol Syndrome Disorders”. Although the stigma associated with FAS or FASD is unfortunate, a diagnosis is essential to establish a foundation for treatment. Become an advocate for the child and parents to find treatment and interventions. This is the single most important act toward moving beyond stigma and caring for this child.
Last Updated
11/29/2021
Source
American Academy of Pediatrics