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Showing results for "Neuromuscular disorders "

Latent profiles of early developmental vulnerabilities in a New South Wales child population at age 5 years

Patterns of early childhood developmental vulnerabilities may provide useful indicators for particular mental disorder outcomes in later life

Determinants of quality of life in Rett syndrome: New findings on associations with genotype

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

A cross-sectional examination of the clinical significance of autistic traits in individuals experiencing a first episode of psychosis

Results suggest that autism traits are associated with poorer clinical presentation in first-episode psychosis populations

Parental Experiences of Having a Child Diagnosed With Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

Cerebral palsy: Epidemiology

Cerebral palsy (CP) is a lifelong physical disability, resulting from maldevelopment or damage to the developing brain. All children with CP have a disorder of movement and posture, but this is often accompanied by disorders of intellect, sensation, behaviour and epilepsy. Long-standing CP registers and surveillance systems estimate the prevalence of CP as approximately 2 per 1000 live births; however variations are seen over time and in different regions of the world.

Fetal alcohol spectrum disorder in Australia: Practice guidelines for diagnosis and management

Fetal alcohol spectrum disorder in Australia: Practice guidelines for diagnosis and management

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome

Cognitive and behavioral factors associated with insomnia in inpatients with schizophrenia and related psychoses

This study examines cognitive and behavioral factors linked to insomnia in individuals with schizophrenia and other psychotic disorders.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.