Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.

Schinzel-Giedion Syndrome (SGS) is a rare neurodevelopmental disorder caused by pathogenic SETBP1 gain-of-function variants. SGS medical features have been well described. Associated skills critical to quality of life have such as communication, feeding, and motor skills are yet to be characterised.

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2.

Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2-related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.

Understanding speech and language in KIF1A-associated neurological disorder.

KIF1A-associated neurological disorder (KAND) is a genetic condition characterised by motor, cognitive and ophthalmologic features. The speech and language phenotype have not been systematically analysed. Here, we assess speech and language using observer- and clinician-reported outcomes, and performance outcome measures.

Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders.

Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.

Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.

Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.

CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis.

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.

Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype.

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

Objectives: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome.

CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.

Speech and language impairments are central features of CDK13-related disorder. While pathogenic CDK13 variants have been associated with childhood apraxia of speech (CAS), a systematic characterisation of communication has not been conducted. Here we examined speech, language, non-verbal communication skills, social behaviour and health and development in 41 individuals with CDK13-related disorder from 10 countries (male = 22, median-age 7 years 1 month, range 1-25 years; 33 novel).

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting .

Background: Heterozygous disruptions of were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition.

Methods: Here we phenotyped 28 individuals from 17 families with pathogenic -only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German.

Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.

Speech and language impairments are commonly reported in DYRK1A syndrome. Yet, speech and language abilities have not been systematically examined in a prospective cohort study. Speech, language, social behaviour, feeding, and non-verbal communication skills were assessed using standardised tools.