Table 3 Recommendations regarding follow-up and examination of individuals with a variant in CHD8.
System | Evaluation/concern | Clarification |
|---|---|---|
Growth | Assessment of growth parameters | Tall stature and macrocephaly are reported frequently. |
Neurological | Developmental evaluation | Screening for motor and speech delay and general cognitive abilities/intellectual disability. |
Neuropsychiatric evaluation | There is a higher risk for ASD, short attention span, psychiatric conditions, abnormal fear/anxiety-related behaviour and emotion/affective behaviour, sleeping problems, abnormal social behaviour and repetitive compulsive behaviour. Preferably performed at a young age. | |
Neurological evaluation | In this evaluation, there should be special attention to hypotonia. | |
Magnetic resonance imaging (MRI) of the brain | Consider screening for structural abnormalities of the brain if indicated neurological features. | |
Electroencephalography (EEG) | Advised on indication when there is suspicion on seizures. | |
Gastrointestinal | Special attention for constipation. | |
Musculoskeletal | Clinical examination for abnormality of the curvature of the vertebral column, jaw abnormalities and pes planus. X-ray when indicated after the examination. | |
Genitourinary | Ultrasound for abnormalities of the kidneys and genital system. | Should be performed at least once at diagnosis with follow-up if abnormalities are present |
Other | Screening for neonatal icterus | Higher risk for neonatal hyperbilirubinemia: Explanation/awareness for parents. |
Glabellar skin | Alertness for glabellar haemangioma | |
Consultation of clinical geneticist/genetic counsellor |
