Phelan-McDermid syndrome is a rare genetic condition caused by a deletion encompassing the 22q13.3 region ora pathogenic variant of the gene SHANK3. The clinical presentation is variable, but main characteristics includeglobal developmental delay/intellectual disability (ID), marked speech impairment or delay, along with otherfeatures like hypotonia and somatic or psychiatric comorbidities.
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the SHANK3 gene. Lymphedema can be a clinical feature in 10-25% of individuals with PMS due to a deletion 22q13.3, but is not observed in those with a SHANK3 variant. This paper forms a part of the European consensus guideline for PMS and focuses on what is known regarding lymphedema in PMS in order to present clinical recommendations.
Gastrointestinal (GI) problems are common in Phelan-McDermid syndrome (PMS). Chewing and swallowing difficulties, dental problems, reflux disease, cyclic vomiting, constipation, incontinence, diarrhoea, and nutritional deficiencies have been most frequently reported.
Despite the inclusion of catatonia as a specifier of autism spectrum disorder in DSM-5, we—a team of child and adolescent neuropsychiatrists who specialise in paediatric catatonia and neurodevelopmental disorders—have identified a number of issues with the diagnosis and clinical management of catatonia in our patients.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and restricted interests and behaviors which begin very early in life. In about a quarter of cases, the symptoms emerge about 18–24 months after a period of normal development, a phenomenon commonly described as early regression. However, marked functional decline can also occur in persons with autism after a relatively stable childhood.
This EL-PFDD meeting was modeled after the work of the FDA’s Patient Focused Drug Development (PFDD) initiative. PFDD is a systematic way of gathering patient perspectives on their condition and on available treatments. The information gathered at the meeting is presented in this Voice of the Patient report, a high-level summary of the perspectives generously shared by the families and caregivers of individuals living with PMS, who participated in the November 8, 2022, EL-PFDD meeting. The report also includes selected comments that were submitted through an online portal.
In 2001, Katy Phelan and Heather McDermid described the clinical and cytogenetic characteristics of 37 people with a 22q13.3 deletion(Phelan et al., 2001). The 22q13.3 deletion syndrome was since then referred to as Phelan-McDermid syndrome (PMS) (OMIM#606232).Later on, the deletion of a single gene, i.e. SHANK3 (OMIM#606230),was found to be responsible for the majority of the clinical features.Individuals with a pathogenic variant in SHANK3 appeared to have a similar phenotype, that is also referred to as Phelan-McDermid syndrome (Schon ¨ et al., 2023, this issue; Vitrac et al., 2023, this issue). Sincenot all individuals referred to in the original publication of Phelan and McDermid may have had a deletion 22q13.3 including SHANK3 there has been some debate on how the phenotype should be called whenSHANK3 is not involved. Consequently, a distinction in different types ofPhelan-McDermid syndrome has been proposed: PMS SHANK3-relatedand PMS SHANK3-unrelated (Phelan et al., 2022).
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other…
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical characteristics to a variable degree, such as hypotonia or psychiatric comorbidities.
Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS.
