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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...

Family functioning in families with a child with Down syndrome: A mixed methods approach

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.

Functioning, participation, and quality of life in children with intellectual disability: an observational study

To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL.

A reduction in reported alcohol use in pregnancy in Australian Aboriginal communities: a prevention campaign showing promise

Glenn Martyn Pearson Symons BA (Education) PhD Candidate B.A. (Hons) PhD. Director of First Nations Strategy and Leadership; Head, First Nations

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder

Exploring enablers and barriers to accessing health services after a fall among people with intellectual disability

There is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability

Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being

For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing

Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015

Almost half of stillbirths could be potentially identified antenatally based on a combination of factors