There’s hope for the pandemic easing, but parents of children with autism still face unique challenges. Employers must offer support.

Published by: HR Drive

As employers begin to focus on reopening workplaces to greater in-person participation amid promising news about the Covid-19 pandemic, it’s important for managers and HR leaders to keep in mind that for families of children with autism spectrum disorder (ASD), this will be yet another transition in a year that has ripped routines to shreds.

“Employers need to be hyper-aware that this is a time when these families will actually need more support,” said Mike Civello, Senior Vice President of Rethink Benefits. “Many of us are so excited to transition back to anything that feels like ‘normal,’ but in many cases, there are complex family situations that will require additional support. A specialized helping hand during this significant home and life transition is critical for this group.” Click here to read the rest story.

Turner Syndrome Characteristics

Turner Syndrome is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome.

Characteristics of Turner syndrome include facial and physical appearance, cognitive characteristics, clinical issues and mental healthy symptoms. No two people with Turner syndrome are exactly the same therefore, not everyone will display the same characteristics:

Facial Appearance
  • down-turning eyelids
  • low-set and prominent ears
  • small jaw
  • high narrow roof of mouth
  • neck webbing
Physical Appearance
  • broad chest with widely spaced nipples
  • narrow fingernails and toenails
  • hand and feet swelling
  • short fingers
  • smaller than average height
  • skin moles
Medical Issues
  • chronic middle ear infections
  • hearing loss
  • heart, liver and kidney abnormalities
  • delayed puberty
  • undeveloped ovaries
  • greater risk for diabetes
  • high risk for celiac
  • high risk for osteoporosis
  • GERD
  • scoliosis
  • hypertension
  • high risk obesity
  • may not have menstruations
Cognitive
  • normal intelligence in some cases
  • issues with visual spatial
  • nonverbal memory
  • executive function issues
  • difficulty in understanding social cues
  • behavior issues.
Mental Health
  • low-self-esteem
  • anxiety
  • depression
Reference
Genetics Home Reference
Wikipedia
Turner Syndrome Support Society- UK

 

Updated 5/25/21

How ADHD Changes in Teens

Published by: Healthline
Written by: Rebecca Joy Stanborough

Adolescence sparks so many physical, mental, and emotional changes that you might wonder whether ADHD also changes during your teen years. The answer is yes… and no.

ADHD doesn’t disappear when people enter adolescence. Some symptoms might settle down, but others might flare up. If your symptoms change and new challenges emerge, it’s important to know what to do about them, whether you’re a young adult with ADHD or the parent of one.

Here’s what to know about how ADHD affects adolescents.

What is ADHD?

Attention deficit hyperactivity disorder (ADHD) is a health condition that makes it harder for people to:

  • pay attention for long periods of time
  • organize and follow through on complex tasks
  • focus in the presence of distraction
  • control impulses
  • remain still and quiet

These symptoms may interfere with your ability to function at home, in social settings, and at school or work.

It’s important to note that in childhood, the teen years, and adulthood, ADHD can look different from person to person. Cultural factors, sex and gender and individual personalities can all shape how ADHD presents. This can make it harder to recognize, diagnose, and treat. Click here to read the rest of the story.

Mosaic Down Syndrome

There are 3 types of Down syndrome disorders with mosaic being the rarest. 90 to 95% of people with Down syndrome have trisomy for chromosome 21. According to researchers, 2-4% of people with Down syndrome have mosaicism.

What is Down Syndrome?

Down Syndrome  is a chromosomal disorder caused by an extra cell division that results in an extra 21st chromosome. This causes developmental delays both intellectually and physically. It is the most commonly occurring chromosomal condition and is estimated that 1 in every 700 babies in the United States are born with Down syndrome.

Mosaicism

Mosaicism or Mosaic Down syndrome develops when there is a mixture of cells meaning some cells contain the extra copy of chromosome 21 while other cells are typical chromosomes.

Prevalence
  • It is estimated that 2 or 3 children diagnosed as having Down syndrome carry the mosaic form.
  • Mosaicism for trisomy 21 was first reported in 1961 by CM Clark, JH Edwards and V. Smallpeice who describe an 11-month old female with good muscle tone, no congenital heart defects, meeting developmental miles yet with eyes similar to babies born with Down syndrome.
  • By 1964, 24 cases of mosaicism were now on record.
  • Little is still known on the similarities and differences between trisomy 21 and mosaic trisomy.
Signs and Symptoms

People with Mosaic Down symptoms often have the same health issues as individuals with trisomy but less severe. This includes:

  • sleep apnea
  • heart issues
  • visual impairments
  • immune disorders
Physical Characteristics

People with Mosaicism vary in physical appearance depending on the number of trisomy cells.

People with Mosaic Down syndrome typically have a higher IQ and are more likely to hold a fulltime job compared to people with trisomy 21 Down syndrome.

Screening Test

Screening test are usually done as routine test during pregnancy health visits.

Updated 5/20/21

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