Author: Tatyana Elleseff

November is Menkes Awareness month, so today Olga Z. Porterfield will be contributing a post on the Menkes Syndrome.

Menkes Syndrome (MNK), also known as Menkes disease, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder originally described by John Hans Menkes (1928–2008), which affects copper levels in the body, leading to copper deficiency. It is an x-linked recessive disorder, and is therefore considerably more common in males with females requiring two defective alleles to develop the disease. It is caused by a defective gene named ATP7A gene that regulates the metabolism of copper in the body. Continue reading Spotlight on Syndromes: An SLPs Perspective on Menkes Syndrome

Today’s guest post on genetic syndromes comes from Lauren Laur, who is contributing a post on the 22q11.2 Deletion Syndrome.

22q11.2 Deletion Syndrome is a syndrome of many names. Also known as Velocardiofacial Syndrome, Shprintzen syndrome as well as DiGeorge Syndrome, 22q11.2 Deletion Syndromeis is caused by a microdeletion on the long arm of chromosome 22 (at location marker q11.2).  This syndrome follows an autosomal dominant inheritance pattern (a child only needs to get the abnormal gene from one parent in order to inherit the disease), however, only around 10% of cases are inherited; the majority of cases are due to a random mutation. Continue reading Spotlight on Syndromes: An SLPs Perspective on 22q Deletion Syndrome

Today’s guest post on genetic syndromes comes from Amy Locy, who is contributing an informative piece on the Treacher Collins Syndrome (TCS). TSC  occurs in 1 out of every 50,000 live births with 40% of children born with TCS having a family member with the syndrome. TCS is distributed equally across genders and races. It can often occur in conjunction with the Pierre Robin Sequence.  

Developmental Anomalies

There are many developmental anomalies associated with TCS that are restricted to the head and neck and vary from person to person. Continue reading Spotlight on Syndromes: an SLPs Perspective on Treacher Collins

Today I am excited to introduce to you the new series which will be featured on my blog and will be written by myself as well as numerous knowledgeable contributing authors. It is an SLP’s perspective on genetic syndromes.

Why syndromes you ask?

Because speech language pathologists in a variety of settings (e.g., schools, hospitals, private practice, etc.) often encounter children with diagnosed or suspected syndromes. Yet the knowledge regarding various syndromes and their effects on communication continues to remain very limited in our field. Continue reading Introducing a New Series for SLPs and Parents: Spotlight on Syndromes