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An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome

Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives

Risk of Mortality into Adulthood According to Gestational Age at Birth

To quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.

Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010

Long-term survival was lower for Aboriginal children with congenital heart defects

Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome

Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood

Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.

Development and initial validation of the Communication Inventory Disability – Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. 

Vitamin D deficiency at 16 to 20 weeks' gestation is associated with impaired lung function and asthma at 6 years of age

This paper examines whether a Vitamin D deficiency during pregnancy affects the child's lung function predisposition towards lung disease such as asthma.

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.