From: PACS1-Neurodevelopmental disorder: clinical features and trial readiness
System | N (%) [N current]a | Specific findings |
---|---|---|
Muscle tone, movement | 22 (63%) [20] | Hypotonia (N = 15), Hypertonia (N = 6), Ataxia (N = 3), Myoclonus (N = 1), Dystonia (N = 1), Tremor (N = 1) |
Gastrointestinal | 14 (40%) | Constipation (N = 14), GERD (N = 1) |
Cardiac | 12 (34%) [4] | Ventricular septal defect (N = 4), Atrial septal defect (N = 4), Patent ductus arteriosus (N = 3), Single ventricular defect (N = 1) |
Skin conditions | 5 (14%) [4] | Excessive moles (N = 3), Atopic dermatitis (N = 1), Acne (N = 1), Portwine stain birthmark (N = 1) |
Lungs | 4 (11%) [1] | Asthma (N = 1), Reactive airway disease (N = 1), Chronic bronchitis (N = 1) |
Endocrine | 9 (26%) [8] | Short stature (N = 3), delayed puberty (N = 2), hypothyroidism (N = 2), precocious puberty (N = 1) |
Dental | 14 (40%) | Thumb sucking (N = 5), bruxism (N = 5), late baby tooth eruption (N = 5), late permanent teeth (N = 5), cavities (N = 3), broken teeth (N = 1) |
Infections | 4 (11%) [1] | Common cold (N = 3), gastrointestinal illnesses (N = 1), skin wounds get easily infected (N = 1) |
Orthopedic | 10 (29%) | Scoliosis (N = 4), Kyphosis (N = 2) |
Allergy | 8 (23%) [6] | Certain foods (N = 4), pets (N = 1), pollen (N = 1) |