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Showing results for "Neuromuscular disorders "

Clinical and biological progress over 50 years in Rett syndrome

Review of the clinical and biological progress over 50 years in Rett Syndrome

Cancer and mental illness: Key issues in mental health

Over many years, it has been shown that cancer represents a significant proportion of excess mortality for people with mental illness.

Access to Pediatric Neurology Training and Services Worldwide: A Survey by the International Child Neurology Association

Pediatric neurology is the medical subspecialty responsible for diagnosing and managing diseases and disorders of the nervous system in childhood and adolescence. In many, but not all, regions of the world, the discipline of pediatric neurology is recognized as a specialty or subspecialty of either neurology or pediatrics. Significant knowledge and competencies in this area are necessary to be effective in clinical practice. 

The psychosocial impact of childhood dementia on children and their parents: a systematic review

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.

Nanoencapsulated Probiotics and Prebiotics

Probiotics are viable organisms that confer beneficial effects against a range of health disorders through interaction with the gastrointestinal tract. Prebiotics, on the other hand are ingredients necessary for probiotics to grow and carry out their function. The incorporation of prebiotics and probiotics in food products has led to the creation of functional foods which has had a direct beneficial effect on health.

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.

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.

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