What is Lowe Syndrome?

Lowe Syndrome also known as Oculocerebrorenal Syndrome is a rare genetic disorder that affects the eyes, brain and kidneys. It has a prevalence of 1 in 500,000 and mainly affects males.

Signs and Symptoms
  • Congenital cataracts
  • eye abnormalities and eye disease
  • glaucoma
  • kidney abnormalities (Renal Fanconi Syndrome)
  • dehydration
  • abnormal acidic blood
  • progressive kidney problems
  • feeding problems
  • bone abnormalities
  • scoliosis
  • weak or low muscle tone (hypotonia)
  • joint problems
  • developmental delays including motor skills
  • short stature
  • intellectual disability
  • seizure
  • behavioral issues

Children and adults diagnosed with children and adults may also show the following signs and symptoms due to an intellectual disability:

  • decrease learning ability
  • delays in crawling
  • delays in sitting up
  • difficulty solving problems
  • lack of curiosity
  • language and speech delays
  • poor memory
  • behavior problems
Teaching Strategies

The following strategies will help when teaching a child or an adult diagnosed with Lowe Syndrome:

  • Use short and simple sentences to ensure understanding
  • Repeat directions
  • Teach specific skills when possible
  • Use strategies such as chunking, backwards shaping, forward shaping and role modeling.
  • Use concrete information
  • Provide immediate feedback

Image thanks to Robert Thomson on Flickr.com (creative commons)

Resources

National Organization for Rare Disorders

Genetics Home Reference

Dove Med

Wikipedia

Advertisements

Teaching Strategies For Students With A Nonverbal Learning Disorder

Nonverbal Learning Disorder is a disorder you may or nay not heard of. It shares similar characteristics to autism such as the challenge in reading body language but is also quite different. By learning the signs and symptoms of nonverbal learning disorder, the better chance you have in using effective teaching strategies.

Nonverbal learning disorder is defines as a person who has difficulty in interpreting and understanding non verbal cues in the environment If 93% of how we communicate is nonverbal, a person with nonverbal learning disorder is only getting 7% of daily communication.

Dr. Byron P. Rouke of the University of Windsor developed the following criteria to assess nonverbal learning disorder:

  1. Perceptual deficits usually on the left side of the body. The child has difficulty understanding or perceiving information through the skin of both hands but the left hand has more difficulty than the right.
  2. Tends to be clumsy
  3. Difficulty with visual-spatial organizational skills. Finds it difficult to organize notes.
  4. Difficulty when encountering new information.
  5. Difficulty in knowing what is expected of you and hard to see the bigger picture
  6. Distort sense of time. Time is abstract and non-linear
  7. Well-developed, rote and verbal capacity
  8. Repetitive way of speaking
Signs and Symptoms
  • Excellent vocabulary and verbal expression
  • Excellent memory skills
  • unable to see the bigger picture
  • Poor motor and coordination skills
  • Difficulty with reading
  • Difficulty with math reading problems
  • Fear of new situations
  • May have symptoms of anxiety, depression
  • Misreads body language
  • Well-developed vocabulary
  • Better auditory processing skills than visual processing skills
  • Focus on details

Teaching Strategies For Parents and Teachers
  • Give assignments in chunks
  • Give constructive feedback
  • Create a daily class routine and stick to them
  • Write the class schedule on the board
  • Provide several verbal cues before transition
  • Give the student time to preview and prepare for new activities such as group projects
  • Minimize transitions
  • Offer added verbal explanations when the student or child seems confused
  • Teach in sequential steps
References

Rondalyn Varney Whitney/OTR, Nonverbal learning disorder: Understanding and coping with NLD and Aspergers: What parents and teachers need to know (2008)

Woliver, Robbie (2008) Alphabet Kids: From ADD to Zellwer Syndrome.

Learning Disabilities of America

Understood

New screening tool can improve the quality of life for epilepsy patients with sleep apnea

Published by: Medical Xpress

Rutgers researchers have developed a tool to help neurologists screen for obstructive sleep apnea in people with epilepsy whose seizures can be magnified by sleep disorders.

The study appears in the journal Neurology Clinical Practice.

Although detection and treatment of obstructive sleep apnea (OSA) can improve seizure control in some patients with epilepsy, providers have not regularly assessed patients for those risk factors. The researchers developed an electronic health record alert for neurologists to evaluate a patient’s need for a sleep study.

This study can determine the necessity for treatment, which can result in improved seizure control, reduction in antiepileptic medications and reduce the risk of sudden unexpected death in epilepsy. Click here to read the rest of the story

Common Signs In Tactile Difficulties

Tactile difficulties occur when the nervous system dysfunctions and the brain is unable to process information through the senses. Some children and adults with this form of sensory processing disorder will be over sensitive to touch. Between 5 to 13 percent of the population is diagnosed with sensory processing disorder.

Common Signs of Tactile Difficulties
  • Difficulty with having nails cut or teeth brushed
  • Becomes upset when hair is washed
  • Dislikes any clothing with tags including clothes, hats, shoes, and complains about the type of fabric and the style
  • Dislikes getting their hands dirty or messy
  • Overreacts when they are touched by other people
  • Oversensitive to temperature change
  • Over or under reacts to pain
  • Prefers deep pressure touch rather than light touch
  • Avoids messy textures
  • Prefers pants and long sleeves in hot weather
  • Picky eater
  • Eyes may be sensitive to cold wind
  • Avoids walking barefoot
  • Avoids standing close to other people
  • May be anxious when physically close to other people
Strategies for Handling Tactile Defensiveness
  • Use deep pressure
  • use weighted items including blankets, vest and backpacks
  • Seek out an OT
  • Utilize a sensory diet
  • Minimize time expected to stand and wait in line by having the child go first or last in line
  • Allow the child to wear a jacket indoors
  • Encourage the child to brush his or her body with a natural brush during bath time
  • Create activities using play doh or silly putty
References

Autism Parenting Magazine

Kids Companion

Sensory Processing Disorder.com

Chu, Sidney (1999), Tactile Defensiveness: Information for parents and professionals

Epilepsy and Autism: What You Need To Know

Studies show that epilepsy are more common in individuals with autism than the general population. Studies show that in some cases, 20% of people diagnosed with autism also have an epilepsy disorder. Other studies indicate epilepsy prevalence estimates between 5% to 46%.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that impacts social, speech, behavioral and motor skills. It is a spectrum disorder meaning it varies from person to person. No two people have the same symptoms. It is estimated that 1% of the population is diagnosed with autism.

Epilepsy is a brain disorder which occurs when neurons in the brain experience a brief interruption causing a seizure to occur. Seizures vary from mild to severe and affects over 3 million Americans. There are different types of seizures:

  • Generalized Tonic/Clonic- A seizures where the whole brain is affected.
  • Absence Seizures- Generally start without any warnings. It affects children and last only for a few seconds.
  • Myoclonic Seizures- Are abrupt jerks of the muscle groups which originate from the spine.
  • Partial Seizures- The person may look as though he or she is in a trance.

There are many unanswered questions as to why epilepsy is more common in people with autism. There is some evidence the common underlying cause may be both are related to genetic and environmental causes and are both related to some type of brain disorder. Evidence does shoe however individuals with autism and epilepsy have worse behavioral and social outcomes than individuals diagnosed with autism only including issues with motor and daily living skills.

Signs for parents to look out for
  • May be difficult to determine especially in children diagnosed with severe autism spectrum disorder. Red flags include, staring episodes, stiffening of the body and shaking movements.
  • A medical evaluation will include brain imaging and an electroencephalogram (EEG).
Teaching Strategies

If you are an educator, be aware that after a seizure, the student will become tired. Allow the student an opportunity to rest.

Reference

Epilepsy Foundation

Medical News Today: Epilepsy and autism: Is there a link?

Neurologist Disorder Treatment. Epilepsy in patients with autism: Links, risks and treatment challenges. Frank McBesag- Published online 2017 Dec 18

Synapse- Autistic Spectrum Disorder Factsheet

 

Early Death in Those with Autism Spectrum Disorder

Published by: Psychology Today
Written by: Michael A. Ellis

Two recent studies will undoubtedly shock individuals and families affected by autism spectrum disorder (ASD). These studies show a much earlier age of death in those with ASD as compared with the general population.

One study, published in the American Journal of Public Health in April 2017, finds the life expectancy in the United States of those with ASD to be 36 years old as compared to 72 years old for the general population.  They note that those with ASD are 40 times more likely to die from various injuries.  About 28 percent of those with ASD die of an injury.  Most of these are suffocation, asphyxiation, and drowning.  The risk of drowning peaks at about 5 to 7 years old.  As 50 percent of those with ASD wander, water safety and swim lessons are a must.  GPS trackers are also available for purchase should a child wander or get lost.  This makes finding the child or adult much easier and faster. Click here to read the rest of the story

Epilepsy Links and Resources

Epilepsy is a neurological disorder which causes seizures through electrical impulses occurring in the brain. It is the fourth most common neurological disorder. Epilepsy affects 50 million people worldwide. In the U.S., 1 out of 26 people are affected. Want to learn more? click on the articles below.

37 helpful epilepsy resources

Apps for tracking seizure

Benign Roladric Epilepsy

Epilepsy Facts

Epilepsy driving and state regulations

Epilepsy-General Information

Lennox-Gastaut Syndrome

Ohtahara Syndrome

November is epilepsy month

West Syndrome

What you need to know about Dravet Syndrome

When an employee has a seizure

What to do when someone has a seizure

 

 

 

Overlap in traits of autism, attention deficit persists into adulthood

Published by: Spectrum
Written by: Nicholette Zeliadt

Traits linked to autism and attention deficit hyperactivity disorder (ADHD) tend to co-occur even in adulthood, according to one of the first studies of the traits in that age group1.

The results extend support for the idea that autism and ADHD are intrinsically linked — a notion that is largely based on studies of children.

“Not much is known about the transition from later adolescence into adulthood with regard to autism and ADHD,” says lead investigator Ralf Kuja-Halkola, a statistician at the Karolinska Institute in Stockholm, Sweden. Click here to read the rest of the story.

What is a Non-Epileptic Seizure?

Did you know that there are seizures that are not due to epilepsy? Since November is Epilepsy Awareness Month, I thought this would be a great opportunity to share information on non-epileptic seizures. It is especially important to know about non-epileptic seizures since 1 in 5 people diagnosed are later found to have non-epileptic seizures.

What is a Non-Epileptic Seizure?

A non-epileptic seizure displays characteristics similar to epilepsy seizures by mimicking similar signs and symptoms including control over their body through shaking movements, blacking out and falling. From the outside, the signs look similar however, the causes are quite different. Non-epileptic seizures, also known as non-epileptic attack disorders (NEAD) tend to resemble a seizure however, they are not caused by electrical impulses in the brain, rather it may be due to an overload of stress including a death in the family, abuse and past painful experiences, causing some to have difficulty handling thoughts and memories in the brain.

What are the Signs and Symptoms?

While the signs differ for each person, a common sign mirrors tonic-clonic seizures involving similar movement including the shaking of the arms, legs and head. Small differences include the person tends to have their eyes closed during the attack which generally last longer than an epileptic seizure.

Who is likely to have a non-epileptic seizure?

Although non-epilepsy seizures can occur to anyone, at any age, studies found people with non-epileptic seizures are:

  • More common in women
  • More common in people experiencing depression and anxiety
  • Likely to occur to people who experience an emotional, stressful event
  • More likely to start in young adults.
Diagnosing Non-Epileptic Seizures

The most effective way for neurologist to diagnose a non-epileptic seizure is through a series of test including personal history, medical history and an electroencephalogram (EEG) used to detect abnormal electrical discharges (would not show up in a person diagnosed with non-epileptic seizures).

Treatment

Treatment is based on the cause of the seizures. Options may include:

  • Medication (antidepressants)
  • psychotherapy
  • Cognitive Behavior Therapy (CBT)
  • Counseling
References

Cleveland Clinic

Epilepsy.org.uk

Non-Epileptic Attacks.Info

Wikipedia

 

Children and Ring Chromosome 20 Syndrome

What is Ring Chromosome 20 Syndrome?

Ring Chromosome 20 Syndrome is a chromosomal disorder that is the result of a ring that develops when a chromosome breaks in two places and the short arm of a chromosome has merged with the tip of the long arm.

This anomaly causes recurrent seizures during childhood. It is reported that the seizure can occur at anytime from during the day time to sleeping at night, it is very rare. In fact only 50 cases have been reported in research journals. However, this form of epilepsy can occur from birth to 17 years old.

What makes this rare form of seizures unique is that it does not respond to anti-epileptic medication. Vagus Nerve Stimulation (VNS) tends to be successful as well as the Ketogenic diet in reducing the number of seizures.

Children diagnosed with Ring Chromosome 20 Syndrome typically experience several types of seizures including:

  • Focal seizure
  • Non-convulsive status epilepticus
  • Frontal lobe seizures
  • Tonic seizures
  • Generalized tonic-clonic seizures
Signs and Symptoms

Children with Ring Chromosome 20 Syndrome generally face challenges in the area of behavioral, learning disabilities and intellectual disabilities. In some instances, children may display physical characteristics including slow growth, short stature and a small size head.

Signs and Symptoms of Intellectual Disability
  • Decrease learning ability
  • Delays in crawling
  • Difficulty solving problems
  • Lack of curiosity
  • Language and speech delays
  • Poor motor skills
  • Short attention span
Teaching Strategies
  • Use short and simple sentences
  • Repeat directions
  • use strategies for remembering such as clustering information together
  • Provide immediate feedback
Signs and Symptoms of learning disabilities
  • Difficulty recognizing non-verbal cues such as facial expression
  • Fine motor skills difficulty
  • Weak visual discrimination abilities.
Teaching Strategies
  • Use a multi-sensory approach
  • Break into small steps
  • use probing techniques
  • use diagrams and pictures.
References

Genetics Home Reference

Rare Chromosome Organization

Wikipedia