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Spotlight on Syndromes: An SLPs Perspective on Menkes Syndrome

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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

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Spotlight on Syndromes: An SLPs Perspective on Down Syndrome

Today’s guest post on genetic syndromes comes from Rachel Nortz, who is contributing a post on the Down Syndrome.

Down Syndrome is a genetic disorder that is characterized by all or part of a third copy of the 21st chromosome. There are three different forms of Down syndrome: trisomy 21, translocation, and mosaicism. Trisomy 21 is the most common form of Down syndrome. This occurs when the 21st chromosome pair does not split properly and the egg or sperm receives a double-dose of the extra chromosome. Translocation  (3-4% have this type) is the result of when the extra part of the 21st chromosome becomes attached (translocated) onto another chromosome.  Mosaicism is the result of an extra 21st chromosome in only some of the cells and this is the least common type of Down syndrome. Continue reading Spotlight on Syndromes: An SLPs Perspective on Down Syndrome

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Spotlight on Syndromes: An SLPs Perspective on 22q Deletion 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

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Spotlight on Syndromes: an SLPs Perspective on Treacher Collins

Anteroposterior view of 2-month-old boy with TreacToday’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

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Introducing a New Series for SLPs and Parents: Spotlight on Syndromes

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

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Working with Russian-speaking clients: implications for speech-language assessment

United States boasts an impressive Russian-speaking population.  Numerous Russian-Americans live in various parts of the country with large concentrations in states such as New York, New Jersey, Pennsylvania, Ohio, Washington, Oregon, Illinois, California, and Florida, with smaller numbers found in most of the remaining states. According to the 2010 United States Census the number of Russian speakers was 854,955, which made Russian the 12th most spoken language in the country (link to statistics). Continue reading Working with Russian-speaking clients: implications for speech-language assessment

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Apraxia RainbowBee App Review and Giveaway

Today I am reviewing a fun new app Apraxia RainbowBee  developed by Virtual Speech Center  to enhance motor planning for children with speech production difficulties.

Similar to their other apps, on the first screen (featured left) the therapist can choose the option of customizing the app’s settings or viewing the informational video. Continue reading Apraxia RainbowBee App Review and Giveaway

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Birthday Extravaganza Day Thirty: Idiom of the Week

Today it is my pleasure to bring you a giveaway by Speech with Sharon, which is an Idiom of the Week.

This awesome 78 page packet contains

37 color and black and white idiom posters for the following idioms:
•Cry my eyes out
•Feeling blue
•Cry over spilled milk Continue reading Birthday Extravaganza Day Thirty: Idiom of the Week

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Birthday Extravaganza Day Twenty Nine: 4-Step Sequencing, Including Pictures!

raeToday’s giveaway is brought to you courtesy of Rae’s Speech Spot . It is 4-Step Sequencing, Including Pictures!  and its perfect for working on sequencing with preschoola nd school aged children. 

Packet Contents:

What is included: Continue reading Birthday Extravaganza Day Twenty Nine: 4-Step Sequencing, Including Pictures!

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Birthday Month Extravaganza: Last Days Giveaway Lineup

Birthday GraphicMy birthday month has been great! But all good things must come to an end! So take a look  at the Last Days Giveaway Lineup and decide whether you want to enter just one giveaway or all of them, it’s really up to you!   Each giveaway will last only one day so you better keep up because if you blink you’ll miss it!

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