Management by a multidisciplinary team is recommended and should be tailored to the patient's individual clinical presentation.
The long-term follow-up of the patient should be coordinated by a pediatrician, adult developmental specialist or clinical geneticist with experience in intellectual disability.
At the time of diagnosis:
• Screening for congenital anomalies.
• Pediatric assessment including measuring of growth parameters (Frequency: at the time of diagnosis, every 6 months in the first 3 years of life, then every year).
• Neurological evaluation, including electroencephalogram during both wake and sleep, brain magnetic resonance imaging, polysomnography, psychological treatment, and treatment of epilepsy when observed (Frequency: at the time of diagnosis, in cases of suspected epileptic seizures and then according to its evolution).
• Rehabilitation therapy is required and should be started as soon as possible. Augmentative and alternative communication is recommended.
• Cardiological evaluation, including electrocardiogram and echocardiogram (Frequency: at the time of diagnosis and then at intervals determined by the congenital anomalies that may be present).
• Pediatric gastroenterological evaluation (Frequency: in case of suspected 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. (Frequency: at time of diagnosis and then at intervals determined by the clinical problems).
• Ocular assessment (Frequency: at the time of diagnosis, then every six months until the age of 6 or according to the clinical problems).
• Hearing evaluation (Frequency: at the time of diagnosis and then at intervals determined by the clinical problems).
• Dental assessment (Frequency: yearly from the age of 3).
• Orthopedic/physical medicine assessment (Frequency: at the time of diagnosis and then at intervals determined by the clinical problems).
• Surgical evaluation in infancy: based on clinical concerns.
• Dietary assessment: based on clinical evidence.
• Immunological pediatric evaluation: in children with asplenia.
• Spine X-rays: based on clinical evidence.
• Hematological tests: blood count, renal and liver function, glucose, APTT, PT-INR, immunological tests (IgG, IgA, IgM, and lymphocyte subpopulations), thyroid function tests (thyroxine FT4, TSH levels), thyroid autoantibodies (TPOAb, TGAb), antitransglutaminase antibodies, IGF1, IGFBP3 (Frequency: at the time of diagnosis, then consider every year based on clinical concerns).
Acute complications
• Repeated epileptic seizures (especially in early childhood).
• Aspiration pneumonia (all ages).
• Heart failure in patients with congenital heart disease (especially in the neonatal period and early childhood).
• Gastrointestinal anomalies and complications of Hirschsprung disease (e.g. intestinal occlusion, enterocolitis) (especially in the neonatal period and early childhood).
• Serious infections, sepsis (in children with asplenia).
• Hematemesis/melena for bleeding from gastroesophageal reflux esophagitis (all ages).
• Acute otitis media (all ages).
Genetic Counselling
Mowat-Wilson syndrome (MWS), an autosomal dominant disorder, is caused by a pathogenic variant in ZEB2, a heterozygous deletion of 2q22.3 involving ZEB2, or a chromosome rearrangement that disrupts ZEB2. Almost all individuals reported to date are simplex cases (i.e., a single occurrence in a family) resulting from a de novo genetic alteration. If the pathogenic variant occurred de novo in the patient (i.e. it was not detected in the parents), the recurrence risk in subsequent pregnancies of the proband’s parents is low (<2%), although it is slightly higher than for other couples in the general population due to the theoretical possibility of germline mosaicism. In these cases, in which the family variant is known, prenatal diagnosis is possible if requested by the parents.
ZEB2