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Genetic Disorders

Genetic Disorders

Genetic Disorders. ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A genetic disorder is caused by an altered gene or set of genes.

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Autism Speaks Launches Genome Sequencing Program

Great news on the current development of the world’s largest database of sequenced genomic information for people with Autism. Recently, Autism Speaks launched “MSSNG,” an awareness campaign to support the development of the world’s largest database of sequenced genomic information on people with autism spectrum disorder (ASD) and their family members. Autism Speaks is collaborating […]

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Better start for Children with Disability Initiative

About helping children with disability There are many disorders that can affect a persons ability to produce speech, understand speech and communicate feelings, thoughts or actions. Speech pathologists can help children with disabilities improve their speech and language to better communicate with other individuals and in doing so often boost their self-confidence. In addition, whilst […]

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Pfeiffer Syndrome: A Speech Pathologist’s Perspective

Pfeiffer Syndrome Pfeiffer syndrome type 2 is a rare autosomal dominant genetic disorder resulting from premature fusion of the skull sutures. The premature fusion of the skull sutures can significantly impact brain growth, which may lead to problems associated with overall development and nervous system function. It falls under the umbrella term of velo-cardio-facial syndrome. […]

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Smith-Magenis Syndrome

Smith-Magenis Syndrome Smith-Magenis syndrome is a rare developmental disorder, which results in mild to moderate intellectual impairment, delayed speech and language development, distinctive facial features, behavioural difficulties and sleep disturbance. It is estimated that Smith-Magenis syndrome occurs affects one in 25000 births. Cause of Smith-Magenis Syndrome SMS is a chromosomal disorder.  Research indicates that it […]

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Angelman Syndrome

What Is Angelman Syndrome? Angelman Syndrome is a rare neuro-genetic disorder, which was first described by paediatrician Dr Harry Angelman in 1965. It is characterised by significant intellectual disability, speech difficulties, sleep disturbances, unsteady gait and seizures. In addition, children with Angelman Syndrome usually present with a happy demeanour. Angelman Syndrome Characteristics Angelman Syndrome occurs […]

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Huntington’s Disease

Huntington’s disease diagnosis Huntington’s disease is a neurodegenerative disease that results in brain cell degeneration and death.   The disease is named after George Huntington, an American doctor, who first detailed the disease in 1872. Huntington’s disease was previously referred to as Huntington’s chorea – referencing the ‘dance like’ movements that are symptomatic of the condition. […]

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