Deletion 22q13 (Phelan-McDermid-Syndrom) in two children with delayed development of speech and muscular hypotonia

Aims: The etiologic clarification of combined developmental disorders including delayed development of speech is crucial for a target-oriented therapy and estimation of prognosis including the prediction of probability of recurrence for further family members and should be the aim of every neuropediatric patient presentation within this collective.

Methods: After thorough neuropediatric and human genetic evaluations children with unclarified combined developmental disorders are often led to solely cyto- and molecular genetic assessments, as well as to array-analyses at our center.

Results: In line with this standardised approach we were able to confirm the suspected diagnosis of deletion 22q13 (Phelan-McDermid-Syndrome) in two children with combined developmental disorders of speech and cognition, muscular hypotonia and shared abnormalities in the neonatal period (swallowing difficulties) recently.

Conclusion: A standardised and symptom adapted approach can lead to diagnostic success even in patients with comparatively rarely described genetic alterations. The knowledge of predictable comorbidities facilitates a timely disclosure and therapy, as well as an extensive genetic counselling.

Deletion 22q13 - Phelan-McDermid - combined development disorder - Sprachentwicklungsstörung - muscular hypotonia