Introduction
Janet is a patient new to the pediatric medical home. She is an 11-year-old female who was brought to a community pediatrician because of concerns about short attention span, hyperactivity, and trouble falling asleep. Upon review of Janet’s medical records, the pediatrician’s initial assessment includes an FASD in the differential diagnosis.
Janet has been treated for Combined-Type Attention Deficit Hyperactivity Disorder (ADHD) with stimulants since age 4. She has also been treated with the alpha-agonist clonidine and atypical antipsychotic risperidone for Oppositional Defiant Disorder (ODD) and sleep disorder since age 7. Janet sees a Child Psychiatrist who manages her medications. Janet has not undergone neuropsychological testing.
Janet’s mother reports that Janet has had difficulties with sleep dating back to infancy. It is only recently that she attends school on time. Her school and home health nurses coordinate to bring her to school because she wakes up late. Janet’s school provides her with special education services, but her educational progress continues to be slow. Her poor educational progress is attributed to inattention. She tests in the low normal range for intelligence. She receives speech-language therapy because of language delays.
Janet was born at 38 weeks and was small for her gestational age at 4 lb 3 oz (<5th percentile). She has been small since birth and is currently below the 5th percentile. She is growing symmetrically.
She is engaging and well-liked although frequently misses social cues. She is cared for by her single mother who is unemployed and receives public assistance. Her mother has family that lives in the neighborhood and provide her with support in caring for Janet.
Contributing Factors to an FASD Diagnosis
Key Facts
- Hyperactive and impulsive child
- Difficulty learning, difficulty with writing, language delays
- Has trouble following instructions
- Ongoing sleep dysregulation
- Misunderstands social cues
Demographic Information
Female, 11 years
Height: 3rd percentile at 1 year
Weight: 5th percentile
Head Circumference:< 5th percentile
Birth History
Gestational Age: 38 weeks
Birth Weight: 4lbs 3oz (< 5th percentile)
Birth Length: 17th (< 5th percentile)
Head circumference: 30.5cm (< 5th percentile)
Prenatal Alcohol Exposure confirmed by biological mother.
Medical History
Diagnosis/Illness: Abnormal sacral dimple, low lying conus
Age at Diagnosis: 11 months
Treatment Plan (including medications):
- Surgery for spinal cord de-tethering
- Repeated imaging in the last year: stable
- Continue monitoring
Diagnosis/Illness: Genetic testing; FAS
Age at Diagnosis: 2 years
Treatment Plan (including medications):
- Normal microarray
- Negative for Fragile X
- Clinical features meet diagnostic criteria for FAS
Diagnosis/Illness: Growth delays
Age at Diagnosis: 3 years
Treatment Plan (including medications):
- Monitor by Endocrinologist
Diagnosis/Illness: FAS
Age at Diagnosis: 4 years
Treatment Plan (including medications):
- Continue with Endocrinologist to monitor growth
- Referral to a therapist for behavioral management
- Child Find to local public school for evaluation for consideration for special needs pre-kindergarten, occupational therapy, social skills, and behavioral support
Pertinent physical examination findings: Microcephaly; cardinal dysmorphic facial features: short palpebral fissures, smooth philtrum, thin vermillion border; and abnormal sacral dimple.
Medical History
Diagnosis/Illness: Microcephaly and small for gestational age
Age at Diagnosis: At birth
Treatment Plan (including medications):
- Monitored, nutritional management
Diagnosis/Illness: ADHD, combined type
Age at Diagnosis: 4 years
Treatment Plan (including medications):
- Stimulants
- Risperidone
- Clonidine
Pertinent physical examination findings: Failure to thrive, short stature and underweight, smooth philtrum, microcephaly
Developmental History/Concerns
- Motor function (poor suckling, writing skills)
- Attention Deficit Hyperactivity Disorder
- Oppositional Defiant Disorder
- Hyperactivity
- Social Skills (withdrawn, socially inappropriate, overly social)
- Self-regulation deficits (difficulty going to sleep, easily overwhelmed, frequent meltdowns, prolonged temper tantrums)
- Memory deficits (poor recall, problems remembering recently learned information)
Living Situation:
- Single Parent Household
Family Strengths:
- Parental Resilience
- Knowledge of community support systems
- Family support in time of need
- Safe home environment
Pertinent social history: No concerns
Psychiatric Diagnoses
- Screened for psychosocial comorbidities with Bright Futures Visit questionnaire
- Referred to new pediatric home because of positive screening
- Currently diagnosed with ADHD and ODD
Provider Plan
- Transfer of care from another pediatrician
- Referrals to genetic testing, developmental pediatrics, school psychologist
Considerations for Improving Continuity of Care in the Pediatric Medical Home
Factors Consistent with an FASD Diagnosis
Three key elements of this case highlight the importance of considering a diagnosis of FASD in this young adolescent:
- Mother’s disclosure of prenatal alcohol exposure
- Intrauterine and persistent small size and head circumference
- Disability in each of the 3 domains of Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE)
- Impairment in neurocognition
- Impairment in self-regulation
- Impairment in adaptive functioning
Differential Diagnosis for Care Management
Genetic conditions, including Fragile X (in both genders) and other chromosomal disorders, are important conditions to exclude when confirming a diagnosis of an FASD or ND-PAE. Adverse social determinants of health including poverty, personal or observed trauma, chronic neglect, and/or growing up in the home of a parent struggling with substance use disorder require careful history to assess possible impacts upon the child. Post-natal adverse experiences compound the developmental and behavioral challenges of children with an FASD. Awareness of the effects of adverse experiences are especially important because many children with an FASD are in foster care and have experienced neglect and/or child physical or sexual abuse.
Pediatricians can educate themselves on providing Trauma Informed Care that impacts the care management, treatment plan, and educational needs of a child living with an FASD. The AAP has an extensive Trauma Toolbox for Primary Care that can be found at: https://www.aap.org/en-us/advocacy-and-policy/aap-health-initiatives/healthy-foster-care-america/Pages/Trauma-Guide.aspx. (placeholder link)
Screening for Prenatal Alcohol Exposure
Because of the pediatrician’s practice and comfort with screening for prenatal alcohol exposure and their non-judgmental stance during this initial visit, screening for prenatal alcohol exposure has allowed Janet’s mother the opportunity to disclose her use of alcohol during pregnancy. Pediatricians should acknowledge the shame and guilt that Janet’s mother may feel as the result of her alcohol use during pregnancy and work to educate her on our current understanding of substance use disorder as a disease without implying that she struggles with substance use disorder.
It is essential to learn if the mother has an ongoing substance use disorder and, if so, explore options and support for her recovery. For mothers already in recovery, a pediatrician who understands the struggles of individuals with substance use disorder can offer support for her ongoing recovery while working with her to ensure that her child obtains services necessary to support her development. Encourage the mother and family to seek a supportive organization such as Alcoholics Anonymous.
Intervention(s) Recommendations to Support Both Patient and Family
Consider Janet to be a child with Special Health Care Needs and establish a Patient and Family-Centered Care Team in the Pediatric Medical Home. The Pediatrician becomes the referral source, convener of care, and communications link to specialists outside of the medical home who are part of the Care Team.
Neuropsychological evaluation is essential for Janet’s care management. Janet’s mother, pediatrician, educators, therapists, and allied health consultants must highlight and support Janet’s strengths while identifying her areas of weakness. This allows the Care Team to individualize and address her immediate and future neurodevelopmental needs.
Support Referrals for the Family
- FASD clinic, if available
- Genetic testing
- Neuropsychology
- Developmental and Behavioral Pediatrics for behavioral interventions
Anticipatory Guidance Approach for the Patient and Family
Anticipatory guidance is dependent upon age and developmental stage. Establish a relationship with the patient’s mother to encourage support for her daughter’s care and participation in the Care Team.
Anticipatory Guidance will focus on social relationships, personal safety from impulsivity, social vulnerability, and accidental injury. Adolescents with an FASD are at high-risk for substance and alcohol use. Counsel the patient about the importance of avoiding alcohol and other substances now and in the future.
View the National Organization on Fetal Alcohol Syndrome (NOFAS) for a searchable directory of FASD diagnostic clinics in the US.
Last Updated
11/29/2021
Source
American Academy of Pediatrics