Severe speech disorders lead to poor literacy, reduced academic attainment and negative
psychosocial outcomes. As early as the 1950s, the familial nature of speech disorders was …

Phelan–McDermid syndrome (PMS) is a genetic condition caused by SHANK3
haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic …

FOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous
FOXP2 pathogenic variants (including whole-or partial-gene deletions). The core phenotype …

Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents
with a disturbed development, neurological and psychiatric characteristics, and sometimes …

Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different
rearrangements at the distal region of the long arm of chromosome 22 (22q13. 3) or …

Purpose: Young children with 22q11. 2 deletion syndrome (22q11DS) often have impaired
language development and poor speech intelligibility. Here, we report a comprehensive …

Children with severe intellectual disabilities encounter inequities in pain-related care, yet
little pain research involves this population. A considerable issue with pain research in this …

(1) Background: Phelan-McDermid Syndrome (PMS) in children causes significant
challenges affecting social and family relationships. The purpose of this study was to explore …

Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-
McDermid syndrome (PMS). Compared to typically developing individuals and individuals …

Phelan-McDermid syndrome (PMS) is a genetic disorder caused by a mutation or deletion of
the SHANK3 gene (chromosome 22q13. 3), characterized by different sensory processing …