At the time of diagnosis, assessments of growth, ophthalmological, audiological, and sleep should be performed, as well as ongoing vision, hearing, and dental assessments. A full cardiac evaluation to include ECG and echo and a renal ultrasound to evaluate structural anomalies are recommended. Clinical evaluation for hypermobility, scoliosis, clubbed feet, and pes planus should be performed. Developmental screening for milestones achievements, atypical behaviours, inattention, hyperactivity, and features of autisms spectrum disorder are recommended with ongoing evaluations, monitoring, and therapeutic interventions.
Throughout patients' lives, multidisciplinary assessments are indicated to guide individualized ongoing special education plans, therapeutic interventions, and transition into adulthood. Referrals for therapies including speech/language, physical, occupational, and sensory integrations may be indicated.