Tuesday, April 7, 2015

Genetics and language processing in the brain

Difficulty communicating with others is one of the defining features of autism spectrum disorder (ASD). For a large subset of individuals with ASD, language disorders or delays contribute to these communication problems. The causes of these communication impairments are not yet known.

A recent study at the Children’s Hospital of Philadelphia (CHOP), led by Dr. Timothy L. Roberts, investigated the possible link between genetics, language disorder, and ASD. Previous research had found that DNA mutations on chromosome 16 – specifically, deletions or duplications of DNA information at the genetic site 16p11.2 – were associated both with ASD and with language impairment. In order to explore how these genetic changes might be related to problems with language and social communication, Dr. Roberts looked at how people with mutations at 16p11.2 process sounds in the brain. This study enrolled children with 16p11.2 deletions, 16p11.2 duplications, and typical development. While all of the participants with genetic differences at 16p11.2 had some neurological or learning disabilities, only a portion had diagnoses of ASD.

The study looked at how children’s brains responded to a series of simple tones. A magnetoencephalography machine was used to measure brain activity. Researchers for this study analyzed a very early brain response to processing a sound. This early response reflects how the brain takes in and processes auditory information from the world around it.

Results showed that the brains of children with a 16p11.2 deletion were significantly delayed in responding to sounds compared to typically developing children. This delay was not found among children with 16p11.2 duplication. Though the delay seems small (23 ms), it is very large when it comes to fast-changing sounds like speech. A 23 ms delay means that a child hearing the word ‘elephant’ would still be processing the ‘el’ sound while other children moved on to processing ‘phant’. Over the course of a conversation, these delays can lead to children falling behind by full words and phrases.

This study shows a clear connection between the 16p11.2 gene and how our brain processes auditory information. Because this gene is also related to ASD, it could be an underlying cause of language problems for some people with ASD.    
Dr. Roberts and his team are continuing their research into the relationship between genetics and the brain’s delay in processing sound. This includes a new study on minimally verbal children with ASD. His team’s goal is to shed light on the possible underlying genetic and biologic causes of language impairment in ASD.

Jenkins, J., Chow, V., Blaskey, L., Kuschner, E., Qasmieh, S., Gaetz, L., Edgar, J.C., Mukherjee, P., Buckner, R., Nagarajan, S.S., Chung, W.K., Spiro, J.E., Sherr, E.H., Berman, J.I., & Roberts, T. P. (2015). Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Cerebral Cortex, http://doi.org/10.1093/cercor/bhv008.

Tuesday, March 24, 2015

Comparing Early Intervention Outcomes

We know very little about which preschool intervention placements produce the best outcomes for which children with Autism Spectrum Disorder (ASD). A team from the University of Pennsylvania examined the effectiveness of three early intervention preschool placements: inclusive, mixed disability, and autism-only.

Children in this study had completed early intervention and were now enrolled in elementary school autism support classes. The researchers assessed each child’s current cognitive skills and reviewed their preschool early intervention educational records.

The three early intervention placements were categorized as follows:

  • Inclusive placements took place in a variety of settings, including center-based programs run by a special education teacher for typically developing children that included children with ASD, Head Start preschools, community-based typical preschools, and day-care settings.
  • Mixed disability placements included children with developmental or other disabilities as well as children with ASD.  
  • Autism-only placements took place in center-based autism support preschool programs.

Children who attended inclusive early intervention placements scored higher on cognitive measures when they started elementary school than the children who were in mixed disability and autism-only placements. This was particularly true for children with at least minimal communication skills, lower adaptive behavior skills, and lower social skills. 

These findings suggest that having more opportunities to interact with, and learn from, typically developing peers may be particularly important for the cognitive outcomes of some children with ASD. However children with ASD with other strengths and weaknesses may benefit from other types of intervention settings.

Based on the findings from this project, the University of Pennsylvania has begun a new study that is following children currently enrolled in the preschool early intervention system in Philadelphia. The researchers plan to follow the children over the course of nine months and observe whether children with different strengths and weaknesses benefit more or less in certain types of settings (inclusive, mixed-disability, or autism-only).

Source: Nahmias, A.S., Kase, C., Mandell, D.S. (2014). “Comparing cognitive outcomes among children with autism spectrum disorders receiving community-based early intervention in one of three placements.” Autism, 18(3), 311-320. PMID: 23188885

Tuesday, March 10, 2015

Sleep Behaviors and Sleep Quality

Getting a good night of sleep is crucial to a child’s development in the areas of attention, learning, memory, mood regulation, and behavior. Poor sleep quality in children also affects parents’ sleep quality. If a child isn’t sleeping well, chances are his/her parents aren’t sleeping well either.

Many children with Autism Spectrum Disorder (ASD) have difficulty falling asleep or staying asleep, but research into this has been limited. A study conducted by a team at the University of Pennsylvania (UPenn) School of Nursing and CHOP aimed to answer two critical questions: how many children with ASD have sleep problems, and what types of sleep problems are most common in ASD.

For the study, families were asked to answer sleep questionnaires and keep a sleep diary over a 17-day period. Parents noted the time the child went to bed, night wakings, morning wake time, naps, and health status during this period.

The children also wore a device that measures motion, called an actigraph, for 10 nights. An actigraph is a miniaturized wristwatch-like computer, and it is now a part of many fitness wristbands and cell phones. The actigraph measures how much children move at night and provides a measure of how much time children spend in different sleep phases. There were concerns about the children’s ability to fall asleep with something on their wrist, so the researchers created a special pocket for the actigraph that could be sewn into the upper sleeve of a pajama top.

When the researchers analyzed the sleep diaries, actigraphy, and sleep questionnaires, they found that 66.7% of children with ASD had some form of insomnia. The children with ASD took longer to fall asleep and had longer waking episodes during the night.

The most prevalent sleep disorders in this group were behavioral insomnia and required intensive strategies to be implemented by the parents to help their children fall asleep. Strategies included repeated reassurance about fears, rocking, patting, and frequently returning them back to bed. Of note, about a third of the children with ASD that had insomnia had strong bedtime routines, fell asleep by themselves, and did not have any medical conditions that might disrupt sleep. Insomnia in these children with ASD may be due to intrinsic causes. Research suggests that a fairly high state of hyperarousal or anxiety may be causing insomnia in these individuals. Ongoing treatment studies are testing whether alleviating the anxiety will also alleviate sleep difficulties.

Greater understanding of insomnia in the ASD population is critical because good sleep is strongly tied to the ability to attend, learn, and self-regulate. The UPenn School of Nursing and CHOP are presently conducting a Pilot Randomized Control study for sleep impairments in ASD. This study is funded by the Department of Defense to develop and refine a tailored behavioral intervention for children with ASD and insomnia that includes a calming module that addresses arousal dysregulation and anxiety.

Source: Souders, M.C., Mason, T.B., Valladares, O., Bucan, M., Levy, S.E., Mandell, D.S., Weaver, T.E., Pinto-Martin, J. (2009). “Sleep Behaviors and Sleep Quality in Children with Autism Spectrum Disorders.” Sleep, 32(12), 1566-1578. PMID: 20041592

Monday, February 23, 2015

Presentations of Anxiety in ASD

Anxiety occurs in about 40%-60% of children diagnosed with Autism Spectrum Disorder (ASD), yet clinicians aren’t exactly sure how the symptoms present and how to treat them.

A recently completed study study by a team at the Center for Autism Research (CAR), suggested that individuals with ASD experience anxiety in two ways.

They hypothesized that some children with ASD experience traditional anxiety. These behaviors are the ones mental health specialists see on a regular basis, such as everyday worries, generalized anxiety, and separation anxiety.

They also hypothesized that some children experience atypical anxiety. These behaviors are ones not commonly seen in anxiety disorders, but cause high levels of distress for children with ASD. Atypical anxiety includes symptoms such as excessive worry about changes in routine, anxiety about knowing what to expect, or worry about very specific topics (the time, following rules, etc.). For a subset of individuals with ASD, these worries can be debilitating. 

The scientists found that of the participants, 63% presented with impairing anxiety. Of the 63%, 17% had traditional anxiety symptoms, 15% had atypical symptoms, and 31% had both.

The children who had traditional anxiety were more likely to be anxious thinkers, have sensory hypersensitivity, and have strong language ability. The severity of their ASD diagnosis did not play a role.

The results suggest that youth with ASD express anxiety in ways similar and dissimilar to children without ASD. This has implications for how we identify, treat, and study anxiety disorders in ASD. If we rely only on traditional definitions of anxiety, we may miss the opportunity to understand and treat some of the atypical anxieties facing children with ASD.  

Source: Kerns, C.M., Kendall, P.C., Berry, L., Souders, M.C., Franklin, M.E., Schultz, R.T., Miller, J., and Herrington, J. (2014). “Traditional and Atypical Presentations of Anxiety in Youth with Autism Spectrum Disorder.” Journal of Autism and Developmental Disorders, 44(11), 2851-2861. doi: 10.1007/s10803-014-2141-7

Friday, February 20, 2015

Spring 2015 Autism Events in Greater Philadelphia

There may be snow on the ground, but spring is just around the corner! Spring is a busy time for autism events in the Greater Philadelphia region. Here is a sampling of what’s coming up!

Thursday, February 26th
Hosted by the Center for Autism Research at CHOP

Thursday, March 5th
Hosted by the Montgomery County Intermediate Unit

Monday, March 9th
Hosted by the Center for Autism Research at CHOP

Thursday, March 12th
Hosted by the Asperger & Autism Alliance for Greater Philadelphia (ASCEND)

Wednesday, March 25th
Hosted by the Center for Autism Research at CHOP

Hosted by the A.J. Drexel Autism Institute

Saturday, March 28th
Hosted by the Bucks County Autism Support Coalition

Sunday, March 29th
Hosted by the Asperger Autism Spectrum Education Network

Wednesday, April 2nd
Resolution 62/139 of the United Nations General Assembly

Date TBD
8th Annual Autism Expo
Hosted by the Philadelphia School District

Saturday, April 11th
Hosted by the Autism Institute of Gwynedd Mercy University

Sunday, April 12th
Hosted by the Autism Society of Greater Philadelphia

Saturday, April 18th
Hosted by Autism Speaks

Hosted by Autism Speaks

Friday, April 24th
Hosted by Penn Behavioral Health and Philly AIMS

Saturday, April 25th
Hosted by the Philadelphia Phillies

Sunday, April 26th
Hosted by the Philadelphia Eagles and the Center for Autism Research at CHOP

Wednesday, April 29th
Hosted by the Center for Autism Research at CHOP

Thursday, May 14th
Hosted by ASCEND

Saturday, May 16th
Hosted by Autism Speaks

Tuesday, June 9th through Thursday, June 11th
Hosted by the Pennsylvania Department of Public Welfare’s Bureau of Autism Services