Ring Chromosome 22

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

Tourette Syndrome Terms You Should Know

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

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

Landau-Kleffner Syndrome

Landau-Kleffner syndrome is a rare epilepsy disorder that affects children between the ages of 3 and 7 years. The child begins to experience gradual or sudden loss of speaking and understanding words.

Children with Landau-Kleffner syndrome are known to also have abnormal electrical brain waves and seizures that occur primary during the night.

A normal developing child, gradually loses expressive and receptive skills. The syndrome affects the part of the brain that controls comprehension and speech. The Broca area which is a region located in the frontal lobe is responsible for speech. Damage to this part of the brain affects speaking. the Wernickle area is located in the left hemisphere of the brain and impacts receiving or understanding language.

Discovered by William M. Landau and Frank Kleffner in 1957 through 6 case histories. Landau and Kleffner findings show that after normal development speech, all children studied developed aphasia from a period ranging from 1 day to several months, studies also found that children also experience seizures and irregular EEG’s especial while sleeping.

Landau-Kleffner syndrome is also known as acquired aphasia with convulsive disorder, acquired epileptiform aphasia and LKS.

Prevalence

Laudau-Kleffer syndrome affects males more than females. It is a rare disease in which 200 cases have been recorded between 1957- 1980. Typically 100 cases are diagnosed every 10 years.

Cause

The cause of Laundau-Kleffner is unknown and likely occurs through a genetic mutation

Signs and Symptoms

Early signs of Landau-Kleffner syndrome includes children who were developing normally losing the ability to speak or understand spoken language. The appearance of hearing loss or deafness, and an epileptic seizure occurring at night. Seizures typically stop by the age of 15. Other signs include behavior issues such as hyperactivity, aggressiveness and depression.

Diagnosis

Landau-Kleffner syndrome is often misdiagnosed as autism, pervasive developmental disorder and hearing impairment based on the gradual loss of language skills. EEG test are necessary in order to provide an accurate assessment since an abnormal EEG is common among children with Landau-Kleffner disorder. Testing often includes standardized speech language assessment in order to rule out deafness or hearing impairment

Treatment

Antiepileptic drugs are often used including Keppra, diazepam at night, and depakote. Speech therapy is also given to help with the loss of language and a behavior treatment plan.

References

Landau-Kleffner Syndrome (1957). “Syndrome of acquired aphasia with convulsive disorder in children.”¬†Neurology. 7(8): 523-30.

Epilepsy Foundation

John Hopkins Medicine

Medicine Net

Medscape

National Organization for Rare Disorders

NINDS

WEBMD

Wikipedia

Updated 5/19/21

Wheelchair Safety and Etiquette Resources

Manual Wheelchair Safety

A guide to using your manual wheelchair safely

A home safety checklist for wheelchair users

Manual wheelchair safety tips for caregivers

Safety first!: Tips for staying safe in your manual wheelchair

Safety/Handling of Wheelchairs

Wheelchair safety and maintenance guidelines and checklist

Wheelchair safety guidelines

Wheelchair safety tips

Wheelchair safety tips you should know

Motorized Wheelchair Safety

5 tips to staying safe while using a power wheelchair

How to operate a wheelchair safely outdoors

Power wheelchair safety tips

Wheelchair Etiquette

The articles below discuss wheelchair etiquette:

A crash course in wheelchair etiquette

Disability etiquette

Tips for wheelchair etiquette

Wheelchair etiquette and disability awareness

Wheelchair etiquette in 8 easy steps