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. Author manuscript; available in PMC: 2019 May 6.
Published in final edited form as: Am J Med Genet A. 2016 Sep 19;170(11):2870–2881. doi: 10.1002/ajmg.a.37688
Medical or psychological feature Recommendation for follow-up and further evaluation
Developmental delay (Age 0–3) Comprehensive developmental assessments should be performed for all children, with evaluation of cognitive, speech-language, motor, social, and adaptive functioning domains using standardized measures. If indicated, initiation of early interventions including developmental, speech, occupational, or physical therapies. If prenatal diagnosis: Evaluations at 6–9 months, 12–15 months, 18–24 months, and 30–36 months. Sooner or more frequent if any developmental concerns. If postnatal diagnosis: Evaluation at diagnosis, and then at ages recommended above.
Learning disabilities Monitor learning and academic performance from preschool throughout education. Psychological evaluations to assess cognitive functioning, learning disabilities at key times during education: early elementary, late elementary, middle school, high school, transition to post-secondary programming. Special education supports (504 plans or Individual Education Plans) as needed. Evidence-based interventions for learning disabilities if identified.
ADHD/executive functioning problems Education of parents/caretakers about executive functioning (EF) and symptoms of EF deficits. Screening of ADHD symptoms by school system and primary care provider with input from family and school as presentation may vary in different environments. Formal evaluation of executive functioning by psychologist or neuropsychologist beginning at 7–8 years of age, and at key times during education: late elementary, middle school, high school, transition to post-secondary programming. Implementation of educational strategies and supports for EF and ADHD symptoms at school and home if present. Consideration of medication treatment for attentional disorders/ADHD if present.
Speech–language disorders Assessment with an experienced pediatric speech and language pathologist with evaluation of expressive–receptive language abilities, higher-order language skills, pragmatic/social use of language, and disorders of speech production (developmental dyspraxia/apraxia) or hypernasality due to possible VPI. Recommended yearly evaluation of speech from birth to 4 years, then every 2–3 years depending on presence or severity of impairment. Speech–language therapy through early intervention, school system and/or privately if indicated.
Motor skills After age 3 years, monitor fine and gross motor skills, balance, coordination, motor planning. Occupational and/or physical therapy interventions if motor deficits causing difficulties with handwriting, play or recreational activities, dressing, eating or other self-care skills.
Social/emotional problems Evaluation by developmental pediatrician, child psychiatrist and/or psychologist related to behavioral difficulties, anxiety, social functioning, autism spectrum disorder, and other behavioral or emotional concerns. Therapy/counseling, school supports and/or medication treatment if indicated.
Adaptive functioning problems Evaluation of adaptive functioning using standardized measures including domains of self-care, communication, social, community use, safety, and self-direction should be included as part of the psychological or educational evaluations recommended above. Occupational therapy to address self-care and other adaptive domains as needed.
Cardiac anomalies Cardiology consultation or Echocardiogram/EKG for all new diagnoses or after birth in a prenatal diagnosis.
Abdominal pain or constipation Evaluation and treatment with primary care provider if present. Referral to gastroenterology if needed.
Seizures Neurologic history, including questions about staring spells or atypical movements. Neurology consultation and/or EEG may be indicated. Anticonvulsant medication(s) if indicated.
Ovarian function/fertility Evaluation by endocrinologist or gynecologist for abnormal pubertal development, irregular menses, or fertility concerns.
Autoimmune problems Thyroid screening every 1–2 years starting around age 10, or sooner if concerning symptoms. Discussion and monitoring of other autoimmune symptoms with primary care provider.
Renal anomalies Renal ultrasound should be performed for all new diagnoses or by 6 months after birth in a prenatal diagnosis.
Genetics In a prenatal diagnosis, postnatal confirmatory genetic testing is recommended, including FISH testing for mosaicism. Consultation with genetic counselor and/or clinical genetics.