Table 2 Summary of clinical follow-up and issues to be considered in an emergency situation
From: Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Clinical evaluation/instrumental test | Frequency |
|---|---|
Pediatric assessment with measuring of growth parameters | At time of diagnosis, every 6 months in the first 3 years of life, then yearly. |
Neurological evaluation (including electroencephalogram when awake and when asleep, brain magnetic resonance image, and polysomnography) and psychological treatment | At time of diagnosis, in cases of suspect symptoms for epileptic fits and then according to the evolution. Rehabilitation therapy is required and should be started as soon as possible. AAC is recommended. |
Cardiological evaluation (including electrocardiogram and echocardiogram) | At time of diagnosis and then at intervals determined by the congenital anomalies that may be present. |
Pediatric gastroenterological evaluation | In case of suspect HSCR in the first months of life and then at intervals determined by the clinical problems that may arise. |
Abdominal ultrasound (especially for presence/absence of spleen) | At time of diagnosis and then yearly or at intervals determined by clinical problems. |
Ocular assessment | At time of diagnosis then semiannually until the age of 6 or according to clinical problems. |
Hearing evaluation | At time of diagnosis and then at intervals determined by clinical problems. |
Dental assessment | Yearly from the age of 3. |
Orthopedic/physical medicine assessment | At time of diagnosis and then at intervals determined by clinical problems. |
Surgical evaluation at infant age | Based on clinical evidence. |
Dietary assessment | Based on clinical evidence. |
Immunological pediatric evaluation | In children with asplenia. |
Spine X-rays | Based on clinical evidence. |
Hematological tests: routine blood chemistry (blood count, renal and liver function, glucose), APTT, PT-INR, immunological tests (IgG, IgA, IgM, and lymphocyte subpopulations),a thyroid function tests (thyroxine FT4, TSH levels), thyroid autoantibodies (TPOAb, TGAb), antitransglutaminase antibodies, IGF1, IGFBP3 | At time of diagnosis, then yearly. |
Acute complication | Age range |
|---|---|
Repeated epileptic seizures | Especially in early childhood. |
Aspiration pneumonia | All ages. |
Heart failure in patients with congenital heart disease | Especially in neonatal and early childhood. |
Gastrointestinal anomalies and complications of Hirschsprung disease (intestinal occlusion, enterocolitis) | Especially in neonatal and early childhood. |
Serious infections, sepsis | In children with asplenia. |
Hematemesis/melena for bleeding from gastroesophageal reflux esophagitis | All ages. |
Acute otitis | All ages. |
