Apraxia & Down syndrome, Part II

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DSC00555Following my post on CAS and children with DS I read many comments and received some insightful questions. I’m going to paraphrase some to help clarify some of the information provided.

Are you saying that children with DS don’t have CAS?

No! Children with DS most certainly can have CAS. However, from my experience with literally hundreds of children with DS, the incidence of this specific speech disorder is very low. By and large I see children with multiple issues that affect spoken language. Here is a classic example of what I see:  

John is a little 4-year-old boy with DS and a history of reflux, 3 sets of pressure equalization tubes, and moderate sleep apnea. He has had his tonsils and adenoids removed surgically 2 years ago. While he doesn’t actively spit up any more, John is a very picky eater. John is very active and enjoys playing ball with his siblings. Actually, he likes throwing everything. John uses about 20 signs, but has only about 10 spoken words. Of those words only his family and close friends really understand him. He is able to imitate some facial movements and is able to mimic some sounds like p, b, and d when he wants to. He doesn’t have any k or g sounds. He has vowels like o and uh, but can’t do ee (like in me). Sometime John will say a word as clear as day and not be able to repeat it again. He has had speech therapy since infancy. John’s parents are frustrated with his slow speech progress and wonder if he could have apraxia.

Children with DS are children. While I would like every child I see to be a textbook case, they simply are not. John’s example illustrates that. Each child is uniquely, beautifully, their own person and this includes the way they acquire speech communication. The case example above may be common, but it is not the whole picture. This child may have apraxia or he may have a different speech disorder. The most important thing to keep in mind is that a one-time evaluation with a new SLP is typically not going to yield a diagnosis of CAS. Since CAS is difficult to accurately diagnose, several sessions may be needed to differentiate the type of speech sound disorder the child demonstrates.

My child doesn’t have the CAS label but the therapist treats it as such. The techniques she uses have been working, so does it matter if we aren’t “officially” diagnoses with CAS?

Good question. For speech therapy to be effective the SLP needs to treat the observable characteristics and understand the underlying cause of the difference. If a therapist  suspects CAS and progress with apraxia-focused treatment is documented, then continue to move forward in therapy. The purpose for official diagnosis is first and foremost in order to accurately be able to treat the disorder – so that the child can develop and use speech as clearly as possible. There are very different techniques used for CAS then other speech sound disorders. I’m not talking about materials or programs that can be purchased. Instead I’m referring to fundamental differences in the treatment approaches SLPs are trained to provide. A child with a phonological disorder may make slower progress in speech therapy if they are incorrectly diagnosed as having CAS.

Accurate diagnosis. Effective treatment. Improved outcomes. Why? Because there is no one in the world more important to you than your child.baby feet

Please continue to share your thoughts and critiques! More to come soon – Jennifer

Apraxia and Children with Down Syndrome

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I’ve read many blog posts and threads on list-servs over the last year and apraxia is a hot topic. As I start our on this series to explain what apraxia is (and isn’t) my hope is two-fold:

  1.  My readers will understand apraxia and how it presents in children with Down syndrome
  2. Any negative emotions related to the term are relived and replaced with new perspective

 I’ve heard many different terms used for apraxia. Which one is the most accepted?

When labeling this speech disorder the preferred terminology is Childhood Apraxia of Speech (CAS). Other terms floating around include: dyspraxia or developmental apraxia, but CAS is the term accepted by ASHA and the Childhood Apraxia of Speech Association of North America (CASANA) http://www.apraxia-kids.org/ and The American Speech-Language Hearing Association (ASHA) http://www.asha.org/public/speech/disorders/childhoodapraxia.htm.

What is CAS?

CAS is a motor speech disorder that is perceived as the child is beginning to learn speech. For reasons not yet wholly understood, children with CAS have great difficulty programming, planning, and producing speech movements. This is different from other speech disorders where the root difficulty is related to learning the sound rules of speech. The movements needed to coordinate speech are highly precise. Children with CAS, like children with Down syndrome, typically have a gap between their ability to understand and their ability to use speech to express themselves. However, the existence of this gap by itself does not indicate the child has CAS.

 I’ve read the description of CAS online and my child has every symptom. Every. Single. One.

webmdWelcome to the world of online diagnosis. Let’s break down some characteristics and explore them as they relate to DS. My comments are based on multiple studies looking at the language development of children with Down syndrome.

  • First words are late, and they may be missing sounds: Children with DS acquire 1st words later and the number of sounds may be limited.
  • Simplifies words by replacing difficult sounds with easier ones or by deleting difficult sounds: Children with DS do this too with more frequency.  This is also a marker for phonological disorder
  • May have problems eating: Problems eating are more likely related to early cardiac or gastrointestinal issues (like reflux) in children with DS than a sign of CAS
  • Makes inconsistent sound errors that are not the result of immaturity: This is a big red flag for CAS. However, as speech is emerging it may be difficult to discern a patterns of error by parents.
  • Can understand language much better than he or she can talk: This goes for about 85% of the children with DS on my caseload, so I don’t emphasize this characteristic when trying to rule-out CAS.
  • Has difficulty imitating speech, but imitated speech is clearer than spontaneous speech: In children with DS, as rate decreases clarity increases as a result of underlying language issues combined with articulation challenges.
  • May appear to be groping when attempting to produce sounds or to coordinate the lips, tongue, and jaw for purposeful movement: Another red flag for CAS; however, it may also exist when children have word finding problems or stuttering.
  • Has more difficulty saying longer words or phrases clearly than shorter ones: Very common in DS and is a function working memory and expressive language needs.
  • Is hard to understand, especially for an unfamiliar listener: Many children with DS are understood by family or friends – the school principle…now that is another story. This characteristic is very common in young children with DS especially with delays in expressive vocabulary.

                   How frequently does CAS occur in children with DS?

apraxiakids2In reality, the prevalence of CAS is low, an 3-5% of diagnosed speech disorders. There aren’t numbers for CAS in DS apart from a 2006 survey  by Dr. Libby Kumin, which places diagnosis around 15%. Based on my own anecdotal, clinical experience, I believe the incidence is lower than the results of the Kumin study. This is because some of the survey questions that target features of CAS could also describe characteristics of other speech disorders. Not surprisingly, this results in apparently discrepant results. Dr. Kumin discusses this saying, “It is interesting to note that the responses to the questions relating to ability to produce a sound word or phrase correctly sometimes, but not at other times were very close [an indicator of CAS]. Yet, when parents were asked whether their child’s speech errors are consistent, they responded that they were consistent [an indicator of other speech disorders].” Surveys that target parental perception are helpful, but not always reliable indicators of a specific disorder.

My child is 3-years-old with Down syndrome and was diagnosed with CAS. I know it must be right. He doesn’t talk much at all – maybe 10 words! We’ve tried everything and nothing has worked. I am so upset. Will he ever talk?

While this example is fictional, I’ve heard it time and time again. My heart breaks for parents who feel this diagnosis is like a sentence to a non-verbal life. Let me be clear – if your child is young (under 5) it is unlikely that the diagnosis of CAS is accurate. In children with DS the acquisition of language and learning to speak clearly takes time. A lot of time. As children gain a skill we expect them to move onto the next step right away. We forget that skills need refinement. We’re able to accept this for walking and handwriting, but speech… waiting for speech is somehow different. It’s more emotional. In an upcoming interview with an SLP whose specialty is apraxia, we’ll explore why early diagnosis of CAS in children with DS is very challenging.

Speech Sound Disorders and Children with Down syndrome

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Continuing our discussion on speech in children with Down syndrome, today we’re going to explore speech sound disorders.

Speech sound disorders may cause problems making individual sounds or difficulty with groups of sounds. Sounds can be changed, left off, or added. The two speech sound disorders we’ll focus on today are articulation disorder and phonological disorder.

Articulation Disorder: Explanation and Treatment

A child who has only one or a few sound errors may be diagnosed with an articulation disorder. For example, a child may substitute the “w” in the word red  changing theart word to “wed.” Even a few errors may make it hard for people to understand your child – especially if they don’t know the topic! 

The underlying cause for this type of speech disorder is largely unknown but in children with Down syndrome this may be related to structural differences in the mouth, persistent ear infections or fluid-filled ears, or other health problems that interrupt development. This type of speech sound disorder is different from dysarthria (muscle weakness), apraxia (muscle coordination), or phonological disorder which is discussed below.

Traditional speech therapy focuses on individual sounds.  Treatment may involve showing how to produce the sound correctly, teaching the child to recognize correct and incorrect sound productions, and practicing sounds in different words. The goal is for accuracy of each sound in all positions of the word (beginning, middle, and end), in phrases, sentences, and ultimately in conversation.

Phonological Disorder: Explanation & Treatment

© Mommy Speech Therapy www.mommyspeechtherapy.com

© Mommy Speech Therapy www.mommyspeechtherapy.com

Another type of speech sound disorder is called a phonological process disorder. This disorder is related to understanding and using the rules of speech production.  As children grow they learn how to organize the sounds of speech. They listen to the sounds around them storing each in their mind. When they begin speak on their own children depend on the stored sound (s), combined with the rules they learned listening to mature speech, to produce sounds themselves.

Children don’t start off with perfect speech. Instead, they naturally simplify speech as they are learning to talk – this is called using phonological processes. As they grow and learn the rules of adult speech they replace this child-like form of talking. If the child continues to use these processes past the age when it is considered developmentally appropriate they may be diagnosed with a phonological disorder.

Treatment for phonological disorders involves targeting each process or class of sounds. This starts by targeting the group of sounds that mature or are established first. For instance, your child may leave the ending off of words (eat to “ee”) and glide sounds (changing “r” and “l” to “w” and “y” – like love to “yuv”). So the SLP would first establish a goal  to have the child produce final sounds, then later address the process of gliding. Heidi at Mommy Speech Therapy has a very nice post with links to treatment ideas for phonological disorders.

Phonological disorders are not related to difficulty producing sounds because of muscle weakness or poor coordination. Rather, the child exhibits difficulty organizing sounds and understanding the rules that govern their production. Ultimately it’s a language problem. This is why techniques that focus on strength or coordination often prove ineffective when trying to improve speech accuracy. In children with Down syndrome, improving working memory may have a positive effect on speech production as the child uses more complicated words and sentences.

An SLP with experience in speech sound disorders will help differentiate these disorders. It is crucial to have an accurate diagnosis in order to effectively improve your child’s speech. We will continue our series on speech disorders looking at apraxia and stuttering in upcoming posts.

Understanding speech problems in children with Down syndrome

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In honor of Better Hearing and Speech Month I am resurrecting and updating a series of posts on common speech disorders in children with Down syndrome. I said it two years ago and it remains today - the most frequent concern I hear is,

whatchasay

“I can’t understand what Joe says. He gets so frustrated because he knows what he wants to say, but it is so unclear! What can you do?”

Contrary to comments I’ve heard, there is no such thing as “Down syndrome speech.” Unclear speech is a symptom of a larger problem. It is important to mention that before your child undergoes a speech evaluation, make sure they’ve had a recent hearing test (within 12 months to the test date). Even mild hearing loss can affect your child’s ability to hear sounds and produce them accurately.

To understand how to improve speech we first need to determine the kind of speech disorder presenting itself. The most common types of speech disorders in children with Down syndrome are as follows:

  • Speech Sound Disorders  - Two types of disorders in this category include 1.) articulation disorder (problems making individual sounds) and 2.) phonological disorder (problems with groups or patterns of sounds).
  • Dysarthria - One type of motor (muscle movement) speech disorder where the muscles of the mouth, face, and/or respiratory (breathing) system may be weak or move slowly. It is important to remember not all children with low tone have dysarthria.
  • Childhood Apraxia of Speech - Some children with DS have apraxia. Like dysarthria, apraxia is a motor speech disorder. Unlike dysarthria it is not due to weakness. Instead, the brain has difficulty planning the movements of the muscles that create speech. Other signs of apraxia include limited consonant and vowels, an appearance of ‘groping’ movements when trying to say sounds, and inconsistent sound errors that are not the result of immaturity or other speech disorder.
  • Stuttering - A disorder in which the flow of speech is broken by repetitions (li-li-like this), prolongations (lllllike this), or abnormal stoppages (no sound) of sounds and syllables.

In order to determine what kind of speech problem affects your child’s speech a thorough evaluation with a speech pathologist (SLP) is necessary.

An SLP is trained to :

  1. Look at the structures that create speech. This includes watching non-speech (puckering, smiling, sticking the tongue out) movements during an oral mechanism examination.
  2. Listen to speech. An experienced clinician will be able to distinguish patterns (or lack of patterns) to understand the type of errors affecting your child’s speech.
  3. Analyze. The SLP will likely use a standardized assessment such as the Goldman Fristoe Test of Articulation to identify sound errors in spontaneous and imitated words. A speech sample during play may also be used.
  4. Diagnose. Usually a differential diagnosis can be completed in one session. However, depending upon the child’s age, cooperation, or type of speech disorder additional visits may be needed. This is especially true of apraxia, a notoriously difficult disorder to accurately diagnose.

Once a diagnosis is made the speech pathologist can help create a treatment plan that specifically addresses your child’s speech disorder.

“Why does it matter what kind of speech disorder the child has – Can’t you just fix it?”

It matters a great deal! If you take your car in because the check engine light is on and the dealer turns it off without addressing the real problem … the light will come back on. The underlying problem isn’t solved.

There are specific ways to target each type of speech disorder. While they all have similar elements, there are very significant differences. Most importantly if your child isn’t properly diagnosed this may lead to ineffective treatment (not to mention a waste of time and money).

Over the next few posts I will address each type of speech disorder as it relates to children with DS. Treatment techniques, tips, and tools will be discussed.

DS/ASD as I know it: The process of diagnosing autism in children with Down syndrome

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pointAlthough Autism Awareness Month is over, today starts May is Better Hearing & Speech Month! To continue our series on dual-diagnosis is an interview with Jennifer Weiner, MA, CCC-SLP. Jennifer is a speech-language pathologist who has worked in clinical and educational settings treating children with a variety of developmental disabilities, including Autism and Down syndrome, for the last twenty years.  With extensive experience in autism, she joined the diagnostic team at The Kelly O’Leary Center for Autism Spectrum Disorders, in the Division of Developmental and Behavioral Pediatrics at Cincinnati Children’s Hospital Medical Center, in 2011. 

Jennifer, Thank you for sharing your expertise with us. When evaluating a child with Down syndrome (DS) for possible autism spectrum disorder (ASD), what is the assessment like? 

The assessment process at The Kelly O’Leary Center is performed on an interdisciplinary level.  Children are typically seen by a psychologist, speech-language pathologist, and a medical provider.  Occasionally, the referring physician will request occupational therapy and/or special education evaluation as well.  The psychologist will first do a Diagnostic Interview with the child’s caregiver.  This is followed by a psychological evaluation in which various assessments are used.

The speech-language pathologist typically performs an evaluation using appropriate standardized language assessments in addition to the Autism Diagnostic Observation Schedule-2 (ADOS-2).  The ADOS-2 is an instrument that is used for assessing autism.  This instrument consists of structured and semi-structured activities that observe a child’s language and communication skills as well as their social interaction.  The ADOS-2 also notes the presence of restricted and repetitive interests. Observations are then categorized into these three areas and research-determined cut-offs identify the potential diagnosis of autism or an autism spectrum disorder.

Once all assessments are completed, the physician compiles the information and determines the most appropriate diagnosis based on the findings of the multi-disciplinary evaluation team.  An information sharing session is then scheduled for the family where results are reviewed and recommendations are made. 

The ADOS-2 is very different from other tests. What features influence the results on this measure?

As stated, the ADOS-2 looks at language and communication, social interaction, and for any repetitive interests or behaviors.  However, there are various factors and behaviors which can impact the scoring of the ADOS-2, thus elevating the individual’s score. For example, activity level or impulsivity may impact a child’s level of engagement and his or her social overtures but does not necessarily preclude an autism spectrum diagnosis.  For reasons like this, the results of the ADOS-2 in children with Down syndrome, as well as all other developmental disabilities, should be interpreted within the context of other reported information, assessments, and clinical judgment before a medical diagnosis is made.  In no way are the results of the Autism Diagnostic Observation Schedule-2 interpreted in isolation to confirm or rule out a diagnosis of autism. 

Why is the accuracy of diagnosis so important in children with Down syndrome and autism?

Having a clear diagnosis opens the door for appropriate services.  Areas of need should guide treatment.  If there is a dual-diagnosis, it is important to choose treatmentbaby strategies specific to the needs of the child. This means that a child with DS and ASD may benefit more from  treatment strategies that are typically used for children on the autism spectrum. For example, a child with Down syndrome may have the foundational skills, including gestural communication and social interaction skills that will allow him/her to access educational settings, services, and communication aides that may differ from a child with a diagnosis of both autism spectrum and Down syndrome. 

Over the years, I have had the opportunity to provide speech-language services in a variety of school environments, including self-contained settings as well as integrated or mainstreamed classrooms.  In my experience, while having an appropriate diagnosis is helpful for access to resources, I have found that all children typically receive the related services necessary to meet their Individualized Education Plan as determined by their educational team.

 Jennifer, what are the areas focused on in speech-language therapy in children with a dual-diagnosis?

An integral part of treatment for autism includes goals targeting the child’s social-interaction skills. Treatment should address the symptoms that most significantly interfere with the child’s daily life. In a child with a dual-diagnosis this may require direct work targeting foundational communication skills that we often expect children with DS to have. These skills include directed eye-gaze, gestures, pointing, facial expressions, joint attention, and shared enjoyment.

Thank you so much for taking the time to answer my questions. It is so helpful to understand the process a bit more. 

Jenn