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.

Autism Speaks Launches Genome Sequencing Program

January 8, 2015 By @entwellbeing

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 with Google to store sequenced data from MSSNG on the Google … [Read more...]

Better start for Children with Disability Initiative

January 14, 2014 By @entwellbeing

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 some consultations are often partially covered through … [Read more...]

Pfeiffer Syndrome: A Speech Pathologist’s Perspective

August 29, 2013 By Eugene Pillay

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. Table of … [Read more...]

Smith-Magenis Syndrome

August 27, 2013 By Jenna Butterworth

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 is caused by the … [Read more...]

Angelman Syndrome

August 21, 2013 By Jenna Butterworth

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 in approximately one per … [Read more...]

Huntington’s Disease

August 7, 2013 By Jenna Butterworth

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. Not all people with Huntington’s disease … [Read more...]

Kabuki syndrome

August 7, 2013 By Eugene Pillay

Kabuki Syndrome Diagnosis Kabuki syndrome is a rare paediatric congenital disorder affecting roughly one in 32,000 births. Kabuki syndrome is idiopathic in nature, meaning, that this congenital disorder has no known cause. It is hypothesised that this syndrome occurs as a result of an underlying genetic origin. Kabuki syndrome was first identified and described in 1981 by leading Japanese scientists, Niikawa and Kuroki. The name ‘Kabuki … [Read more...]

Cri du chat syndrome

July 11, 2013 By Eugene Pillay

Cri Du Chat Cri du chat syndrome is a genetic disorder caused by partial deletion of chromosome 5p. It is a rare genetic condition that affects one in approximately 50,000 children. Infants with this condition often have a high-pitched cry that sounds similar to a cat-cry. As such, its name derives from the French term ‘call of the cat’ referring to the high-pitched cry. Cri Du Chat Syndrome Characteristics Cri du chat syndrome is … [Read more...]

Pfeiffer Syndrome Type 2

July 9, 2013 By Eugene Pillay

About Pfeiffer Syndrome Type 2 Pfeiffer syndrome type 2 is a rare autosomal dominant genetic defect 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. Salient features of velo-cardio-facial syndrome may … [Read more...]

Fragile X Syndrome

July 4, 2013 By Jenna Butterworth

What is Fragile X Syndrome? Fragile x syndrome is a genetic condition which causes various degrees of intellectual disability, behavioural and learning challenges and distinctive physical features. Fragile X syndrome can affect both genders, however males generally present with a greater severity in symptoms. Statistics indicate that in Australia approximately 4,300 males and some 2,175 females currently may have the full mutation with … [Read more...]