Sunday, October 2, 2016

Down syndrome & Apraxia

For day 2 of blogging for 31 days of October in celebration of Down syndrome Awareness month, I am teaching about Down syndrome and childhood apraxia of speech (CAS). Childhood apraxia of speech is best defined here. But basically, CAS onsets in childhood and makes it difficult for the child to move their mouth to form sounds and to put those sounds into syllables and words. These children require intensive speech therapy to help them achieve more complex words forms (mama versus mommy) and to be able to build phrases and sentences.

Libby Kumin's research estimates that 15% of children with Down syndrome also have a diagnosis of childhood apraxia of speech. However, this statistic may not be well known among families and speech-language pathologists.

My daughter, Jaycee, has Down syndrome and childhood apraxia of speech. She was diagnosed with severe CAS about 5 years ago. By sharing our experiences, I hope you can better understand the red flags and issues involved with the diagnosis of CAS.

Here are some red flags I noticed in Jaycee from birth-3 years:
-She babbled very little as a baby. If she did babble it was something simple like "dada" with no long strings of varying consonant sounds.
-Jaycee babbled "dada" around 10 months old. I was so excited to hear this, however she didn't add anything else to this babbling for months and months.
-Jaycee was able to learn and use sign language well. By the time she was 3, she knew well over 100 signs. Yet, she couldn't say something simple like mama.
-Her first word was "bye-bye" at 29 months old.
-By the time she was 3, Jaycee identified several colors, knew several shapes, and could identify several body parts. Her receptive language was far better than her expressive language, which is a hallmark of CAS for any child with or without Down syndrome.
-Her spoken vocabulary at age 3 was limited to dada, papa, bye-bye while her signing vocabulary was growing rapidly.
-When I did have Jaycee try to imitate sounds/words, she displayed oral groping-when the child moves her lips or tongues in an effort to figure out how to produce a sound.
-She had great difficulty learning to drink from a straw. It took months of practice for her to learn to put her lips around the straw and suck liquid up. She might do it once but not be able to do it again. Only through months of repetition did she finally learn how to do it.
-Jaycee had lots of feeding issues as a toddler. She gagged on many textures to the point where she vomited! This occurred daily for months. Jaycee was finally off of baby food by age 2. But she was a disordered eater for a long time, unable to tolerate mixed textures like spaghetti. Things like green beans or applesauce were fine but pizza was hard for her to eat and enjoy. (She is way past all these feeding issues now!!!)

By the time she was 3, I was convinced that Jaycee had CAS. The problem was she was young to be diagnosed, especially since she had Down syndrome. When I mentioned it to her therapists or other therapists I knew, no one agreed with me. They told me she would be a late talker because of her Down syndrome. They told me to give it time. But, I knew a child who could sign to tell me the alphabet and could sign 15 different animal names correctly but couldn't imitate a /m/ wasn't normal for Down syndrome.

I let it go and started addressing it myself. I started to work with her at home using the Kaufman Speech Praxis Kit 1 and using exercises recommended by Talk Tools. It was painful! She barely made any progress. Jaycee basically made vowel approximates for every word leaving any consonants off, if she would even attempt the word I was targeting. Speech imitation was almost non-existent at first. I read up on CAS and Down syndrome and investigated techniques that could help her.

Finally around 4.5 years old, I requested an evaluation with a speech-language pathologist (SLP) at the closest Children's hospital. This SLP assured me that she had experience with both Down syndrome and CAS and would be able to determine if Jaycee had it. A few months later, Jaycee was tested and the diagnosis of severe CAS was given with the recommendation for intensive speech therapy following an apraxia treatment approach. Due to the severity of her CAS and good receptive language, a communication device was recommended since this SLP believed that Jaycee would struggle to learn to speak for a very long time. (She was right!)

Today, Jaycee has had her communication device for about 5.5 years. It has greatly improved the quality of her life as she can talk about more topics and with more people than with just sign language.
Jaycee's home screen on her communication device

Speaking is still difficult for her. She tries more things but it's just hard for her. Her speech is still severely delayed. Most 2 year olds have a larger vocabulary than Jaycee. She says about 20 words clearly now. Some words she can say now are: dada, bye-bye, papa, mama, bubba (brother), hot, hop, Anna, hi. Some less clear words she says are: please ("s"), you ("ew"), love ("uh"), Leah ("ah"), and Joel ("oh"). She tries to sing along to songs now using mostly vowel sounds, but it is great to hear her voice more often.

It is important to note that Jaycee has a severe case of CAS. CAS can range in severity from mild to severe. Children with CAS can make progress and learn to speak. Jaycee is just one example.

I hope by sharing these things about CAS, parents will learn that this can happen with Down syndrome and it is difficult to get a diagnosis so look for the right person who can help you.

My advice is that if a child with Down syndrome is not talking by age 5, they should be comprehensively evaluated to rule out CAS. Of course, hearing should be evaluated first as this is another common issue that could affect speech development. CAS is difficult to diagnose in any small child but especially Down syndrome. It is easy for professionals to blame the child's lack of verbal speech on a language delay, intellectual disability, or on weak oral muscles due to hypotonia associated with Down syndrome. Therefore, a speech-language pathologist with experience diagnosing CAS is essential in order for a diagnosis to be made. There are many hallmarks of CAS that are true regardless of Down syndrome or not, so a definitive diagnosis can be made.

This post is for Down syndrome Awareness Month where bloggers write for all 31 days of October for Trisomy 21. I am part of this 31 for 21 challenge. During the month of October, the NDSS asks that we celebrate people with Down syndrome and make others aware of abilities and accomplishments. Individuals with Down syndrome have abilities that need to be celebrated!

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