Wednesday, November 13, 2013

Post 2: Environmental Design for People with Autism Spectrum Disorders: Getting to know the People

Interesting snippets from Autism Research:
Overall, the children who participated in this study sought out play experiences with which they were familiar in their natural environments. Specifically, they sought out experiences that afforded them the opportunity to exercise control over their environment and create a sense of predictability. Each of the children assumed the role of “orchestrator” and conducted his or her engagement in play occupations. The children demonstrated some spontaneous play within their social environment; however, many developmentally age-appropriate behaviors were not observed.  (Greenspan and Wieder (1997)

Blanski: Research has shown that these (autistic) children are overstimulated by bright primary colors. Earth tones, however, such as browns and taupe, they find soothing. We also incorporated furniture fabrics without patterns, because these children tend to fixate on patterns and start counting.

As there is no single prototype that works best for the vast spectrum of adults with ASDs, the optimal approach is to have a range of residential options available within communities and to work with individuals to find which best suits them. (Full Spectrum Housing Report)

What are the signs and symptoms of Autism/Autism Spectrum/Aspergers Syndrome?

 I've spent the past few weeks delving into how to design a home or classroom for someone with autism.  This is the first post of my findings.  Prior to going into details here are a few cursory notes about autism spectrum disorder just to make sure we're on the same page.

What Is Autism? What is Autism Spectrum Disorder? 
According to the website:  Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. With the May 2013 publication of the DSM-5 diagnostic manual, all autism disorders were merged into one umbrella diagnosis of ASD. Previously, they were recognized as distinct subtypes, including autistic disorder, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome.
ASD can be associated with intellectual disability, difficulties in motor coordination and attention and physical health issues such as sleep and gastrointestinal disturbances. Some persons with ASD excel in visual skills, music, math and art. 

Friday, November 1, 2013

Trisomy 10q Syndrome

Is Down Syndrome being misdiagnosed? It may be the most common genetic disorder, however; there is another genetic disorder known as Distal Trisomy 10q that may be getting ignored.

The boy on the left has Distal Trisomy 10q while the boy on the right has Down Syndrome. As you can see, both disorders express similar facial characteristics, making them difficult to tell apart.

Typical facial features of Distal Trisomy 10q include:

  • Narrow eye openings
  • Up-slanting eyes
  • Arched eyebrows
  • Arched palate (cleft)
  • Flat nose bridge
  • Bow shaped mouth
  • Small, low set ears
  • Short neck
  • Sloping shoulders
Typical symptoms associated with this disorder include:

  • Dysmorphic craniofacial features
  • Mental retardation (greatly varying)
  • Growth retardation
  • Psychomotor retardation (fine motor, speech)
  • Hypotonia (weak muscles)
  • Heart & Kidney Defects
  • Kyphoscoliosis (humped back / scoliosis)
  • Camptodactyly (flexed / crossed fingers)
  • Wide gap between 1st & 2nd toes

Distal Trisomy 10q is an extremely rare genetic disorder, with an occurrence of only 1 in every 6,000,000 children born with it each year. In some cases this disorder may be diagnosed prenatally, through specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling. However, more often, it is diagnosed through other means, postnatally, such as a thorough clinical evaluation, identification of characteristic physical findings, chromosomal studies, and or specialized imaging studies. 

In all, Distal Trisomy 10q is an extremely rare genetic disorder that is primarily diagnosed based on physical features. With such a similar appearance, could it be that children are being mistakenly diagnosed as Down Syndrome? Or is this disorder truly as rare as the numbers suggest?

For more information, visit the following links:

OR message me, and I will email you the relevant research articles I have found.