Autism, Speech & Language, Uncategorized

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

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.