Puberty and autism: An unexplored transition

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Published by: Spectrum

Henry’s early years in school had been rocky enough. The boy had been diagnosed with autism at age 7. He struggled to control his emotions and process sensory information in his Tennessee classroom. But by the time Henry was 10, his parents had figured out ways to ease these issues with therapy and medication.

Then puberty hit. Henry became moody and more sensitive. A perceived slight from a classmate could trigger an emotional outburst. “He couldn’t bounce back,” says his mother, Elisa. “He was upset for the rest of the day.” (We withheld Henry and Elisa’s last name to protect their privacy.)

Henry’s outbursts became harder and harder to manage as the small boy shot up to nearly 6 feet tall. Last year at age 13, as he was adjusting to new medication, his irritability and compulsive behaviors got so bad that Elisa and her husband pulled Henry out of school for two weeks. “He was so sad,” Elisa recalls. “It was awful.” Adding to the pandemonium was Henry’s burgeoning sexuality, complicated by his challenges with social skills. He would tell a raunchy joke, not intuiting that his parents would find it offensive. He might ask a girl he hardly knew to be his girlfriend. “I hope that we can just finish out this puberty ride,” Elisa says. “Because it is a roller coaster.” Click here to read the rest of the story.

Ring Chromosome 22

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According to the March of Dimes, about 1 in 150 babies are born with a chromosomal condition. Changes of the chromosome can occur through duplication, deletion or inversion.

Ring Chromosome 22 is a rare disorder which occurs when a component of the short arm and a part of the long arm are missing which join together causing to form a ring.

Prevalence

Ring Chromosome is extremely rare. There are approximately 100 known case.

Signs and Symptoms
Signs and symptoms vary based on the amount of genetic material lost and the location of the break in the chromosome. Signs and symptoms typically include, developmental delays, intellectual disabilities in the severe to moderate range, speech delay, hypotonia, unsteady gait, seizures and hyperactivity. Physical characteristics in some cases include webbed toes and a bulbous nose.
Ring Chromosome 22 and Autism

It is estimated that 30-79% of people diagnosed with Ring Chromosome 22 also displayed autistic features. In cases where Autism and Ring Chromosome 22 coexisted, it was found that autism symptoms such as mood disorders, hyperactivity, and aggression were evidenced.

Treatment

There is currently no cure for Ring Chromosome 22. The following are used as a way to manage the disorder.

  • special education
  • speech therapy
  • physical therapy
  • seizure medication.
Resources
  1. Genetics Home Reference
  2. Wikipedia

Can exercise improve cognition for people with Down syndrome? A new study aims to find out Social Sharing

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Published by: CBC
Written by: Angelina King

The Canadian Down Syndrome Society (CDSS) is partnering with a British university and a cognitive brain-training app to launch an international research study looking at a potential link between exercise and improved cognitive function for those with Down syndrome.

The study aims to prove what the CDSS says is “anecdotal evidence” that exercise can help with memory, speech, social skills and other abilities in people with Down syndrome. The charity says physical activity hasn’t been a priority because the research hasn’t been done.

“There is very little empirical evidence in this area to help support the medical community in recommending [exercise] as part of the imperatives in the treatment programs,” CDSS Toronto board member Ben Tarr said.

The study, called Mindsets, launched its pilot phase on March 21, which is World Down Syndrome Day. Researchers are looking to recruit at least 200 participants to begin the full eight-week portion next month. Click here to read the rest of the story.

Tourette Syndrome Terms You Should Know

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June is Tourette Syndrome Awareness Month.

According to the Tourette Association of America, tics are involuntary, repetitive movement and vocalizations. They are the defining feature of a group of childhood-onset, neurodevelopmental conditions known collectively as Tic disorders and individually as Tourette Syndrome.

Tics are common in childhood. The estimated prevalence of Tourette Syndrome disorder range from 3 to 8 per, 1,000 in school-aged children. Males are more commonly affected than females. Some people may have tic-free periods of weeks to months.

The following are terms related to Tourette Syndrome Disorder:

Attention Deficit Hyperactivity Disorder (ADHD)– a neurological disorder characterized by a pattern of inattention and/or hyperactivity-impulsivity that disrupts functioning in both children and adults The DSM-V defines ADHD as a persistent pattern of attention and or hyperactivity-impulsivity that interferes with functioning of development.

Coprolalia– associated with socially inappropriate words that are derogatory and obscene. It is rare and only impacts 10% of people with Tourette syndrome and is not used to diagnose the syndrome.

Co-Morbidity- the presence of one or more additional conditions occurring with a primary condition.

Echolalia-is characterized as the repetition of words that may be immediate or delayed after the original words are spoken.

Gilles de la Tourette– First person to publish an account in describing a person with “convulsing tic disorder.”

Motor Tics– caused by a movement.

Neurodevelopmental Disorders

Obsessive- Compulsive Disorder (OCD)- is defined as a disorder that includes two core symptoms- obsessions and compulsions. According to the Census for Disease Control and Prevention (CDC), obsessions are defined by: Thoughts, impulses, or images that occur over and over again. These thoughts, impulses or images are unwanted. They cause a lot of anxiety and stress.

Palilalia– involuntary repetition of words, phrases or sentences.

Simple Moto Tics– sudden movements including eye blinking, head shaking, shoulder shrugging or arm jerking. Tends to be brief.

Simple Phonic Tics– sudden sounds including sniffing, coughing, throat clearing and grunting.

Tics- movements or sounds that are unpredictable.

Tourette Syndrome-involuntary, repetitive movement and vocalizations. They are the defining feature of a group of childhood-onset, neurodevelopmental conditions known collectively as Tic disorders and individually as Tourette Syndrome

Involuntary– done without conscious control.

Vocal/ Phonic Tics- tics that produce a sound.

Pervasive Developmental Disorder- Not Otherwise Specified

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According to the 5th edition of the Diagnostic and Statistical manual of Mental Disorders (DSM-5), Autism Spectrum Disorders is based on social communication impairments and restricted, repetitive patterns of behavior with varying levels of severity based on levels of support.

There are four sub types of Autism Spectrum Disorder including:

  1. Asperger’s Syndrome
  2. Autistic Disorder
  3. Childhood Disintegrative Disorder
  4. Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS)

What is Pervasive Developmental Disorder- NOS?

PPD-NOS historically was a term used as a catch- all under the diagnosis of the autism spectrum disorder. It was used as a diagnosis for children who displayed some symptoms of autism, but did not meet the full criteria for the disorder. In order to meet the criteria, a child must have persistent deficits in the areas of social communication and interaction and at least 2 of the 4 types of restricted behavior.

People diagnosed with PDD-NOS tend to display a milder form of the autism disorder while this is not always the case. In some instances, some characteristics may be mild, but severe in other areas.

Prevalence 

The prevalence for PDD-NOS is 60-70 per 10,000 and it is considered one of the most frequent childhood neurodevelopmental disorders.

Research Studies

Very little research has been done specifically on PDD-NOS over the years. Some studies discovered that children diagnosed with PPD-NOS were more likely than other ASD diagnosis to no longer show ASD symptoms as they grew older. In one study, it was found that 39% of the sample of children no longer met the criterial for ASD. In another study, it was found that of the 97 children with a PDD-NOS, 25.8% had some degree of an intellectual disability and 9.3% had an associated medical condition such as Fragile X Syndrome disorder or a hearing/visual impairment.

Signs and Symptoms

For individuals diagnosed with PDD-NOS, it is not uncommon to see a higher level of social skills. characteristics may include:

  • Challenges with social behavior
  • Uneven skills development such as high level social skills and delays in play.
  • repetitive body movement
  • Communication challenge such as recognizing facial expressions and emotions and lack of understanding figural of speech and idioms.
  • Maladaptive daydreaming and fantasies
Diagnosis

Assessments

Treatment

While there is no known “cure” to treat PDD-NOS, individuals can benefit from:

  • Social stories
  • Occupational therapy
  • Physical therapy
  • Speech therapy
  • Medication to treat anxiety and depression
The following links describe in more detail specific characteristics of a person with PDD-NOS:
My ASD Child
National Autism Resources
WebMD.Com
Wikipedia