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

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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

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 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

 

 

 

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

The Challenges and Gifts of Dyslexia: An Infograph

Dyslexia is a learning disorder characterized by difficulty in reading. Children and adults with dyslexia have normal intelligence but experience challenges with spelling, reading and writing words. There are also positive traits with dyslexia. See the infographic below:

The
The Challenges and Gifts of Dyslexia by Wooden Toy Shop.

Great Websites for Women and Girls With ADHD

According to the Centers for Disease Control and Prevention (CDC), boys are more likely to receive a diagnosis of ADHD due to the symptoms in girls are more subtle and typically do not fit the stereotype. Girls are more likely to daydream, fidget, chatty, overly emotional, and appear “less difficult or “less difficult” than boys.

Women with ADHD are more likely to eating disorders, obesity, low-self-esteem, depression and anxiety.The following websites provide helpful information on ADHD for women and girls.

Signs and Symptoms

  • The following sites includes information on identifying the signs and symptoms of ADHD in both women and girls.

ADHD affects women differently: What to look for, how to fix it (Health)

ADHD in girls: Symptoms, treatment and more (Healthline)

Gender differences in ADHD (Psych Central)

Common ADHD symptoms in women totally ADD ( Totally ADD)

Common symptoms of ADD and ADHD in women (Health Central)

Girls and ADHD: Are you missing the signs? (Teacher)

How ADHD is different for girls (WebMD)

It’s different for girls with ADHD (The Atlantic)

Understanding ADHD in Women (U.S. News)

Understanding the signs of ADHD in girls (Very Well)

Women and Girls– by National Resources on ADHD (CHADD)

Parenting

  • Managing a child diagnosed with ADHD can be challenging. The following articles share tips on raising a child with ADHD. Additional information includes strategies for both children and teens with ADHD.

8 secret tips for parents of children with ADHD (Empowering Parents)

8 things I wish people knew about parenting a child with ADHD (Understood)

12 rules for parenting a child with ADHD (ADDitude)

ADHD parenting tips (Help Guide)

Does your parenting style work for ADHD (Impact ADHD)

Parenting kids with ADHD: 16 tips to tackle common challenges (Psych Center)

Parenting strategies for helping kids with ADHD (MSU)

Parenting teenagers with ADHD (Healthy Children)

Your ADHD child: Easy parenting techniques (Child Development Institute)

Tips for parents with ADHD raising kids with ADHD (Parenting)

Resource Articles- Girls

  • The following links includes articles specifically on girls with ADHD including parenting a child with ADHD and unique challenges girls face.

Advice for parenting girls with ADHD (Lifescript)

Girls with ADHD face unique challenges (Smart Kids)

How girls with ADHD are different (Child Mind Institute)

Understanding girls with ADHD symptoms and strategies (Great Schools)

Resource Articles

  • Below includes a listing of resources on a variety of articles specifically for women with ADHD. Women face a number of challenges including managing and organizing the home and workplace. Additional challenges may include raising a child also diagnosed with ADHD. (ADHD is often inherited).

6 ways to manage clutter with ADHD (Health Center)

ADHD: A women’s issue (American Psychological Association)

ADHD is different for women (The Atlantic)

Adult women are the new face of ADHD (The Daily Beast)

Against the wind: How it feels to be a woman with ADHD (ADD Free Sources)

Decades of failing to recognize ADHD in girls has created a lost generation of women (Quartz)

I’m a woman with ADHD and here’s why I didn’t know until I was 28 (Bustle)

Is ADHD different for women and girls (Scientific American)

Suffering in Silence: Women with adult ADHD (Medicine. Net)

The hidden struggle for women with ADHD (Broadly)

The new ADHD debate every woman should know about (HuffPost)

“That explains everything!” Discovering my ADHD in Adulthood (ADDitude)

This is how ADHD impacts women and why support communities (Mind)

What it’s like to have ADHD as a grown woman (The Cut)

Websites

  • There are a number of websites that are geared towards women with ADHD. I like the websites described below. These sites are written by women with ADHD which includes personal stories and helpful information.

ADHD Roller Coaster– Author, Gena Pera’s website provides news and essays on adult ADHD

Kaleidoscope Society– A website for and by women with ADHD

Smart Girls with ADHD– A website written by women with ADHD includes resources and personal stories.

Testing

  • The following sites includes a checklist and testing if you believe you have diagnose of ADHD.

A symptom checklist for ADHD in Women

The ADHD test for girls

The ultimate ADHD test for teen girls

Duchenne Muscular Dystrophy

Image result for duchenne muscular dystrophy awareness month

February 13th is the first day of Duchenne Muscular Dystrophy Awareness Week. Here are some facts on Duchenne Muscular Dystrophy:

  • It is one of the nine types of muscular dystrophies
  • Duchenne muscular dystrophy was first described by French neurologist, Guillaune Benjamin Amand Duchenne in the 1860’s.
  • It is an inherited disorder
  • It is caused by an absence of dystrophin, a protein that bonds the muscle cell
  • It is characterized by progressive muscle degeneration
  • It occurs in about 1 out of every 3,600 male infants
  • Risks include a family history of Duchenne muscular dystrophy
  • Symptoms start appearing between the ages of 3-5.
  • By the age of 12, most males affected may lose their ability to walk
  • Breathing difficulties and heart disease usually start by the age of 20
  • Very rare are females affected by the disease.
  • Early symptoms include muscle weakness in the hips, pelvic area, thighs and shoulders.
  • By teen years, the heart and respiratory muscles are affected.
  • Duchenne muscular dystrophy carriers are females with one normal dystrophin gene on one x chromosome and an abnormal dystrophin gene on the other x chromosome
  • Most carriers do not show any signs or symptoms.
  • Affected children may have delayed motor skills including sitting, standing and walking.
  • Survival into the early 30’s is becoming more common due to advances in cardia and respiratory care.
  • Duchenne is associated with a heart disease that weakens the cardiac muscle
  • Between 400 and 600 boys in the United States are born with these conditions each year.
  • there are a few cases which results from new mutations in affected males
  • steroid drugs can slow the loss of muscular strength
  • There is no known cure for Duchenne muscular dystrophy

April is Child Abuse Prevention Month

Definition

Child Welfare Information Gateway
Child Help
Wikipedia
Centers for Disease and Prevention (CDC)
Medicine Net

Statistics and Facts

Child Help
Safe Horizon
Do Something Organization

 American Humane Association

Signs and Symptoms

Kids Matter
Tennyson Center for Children
Mayo Clinic
WEBMD

Preventing Child Abuse

National Child Abuse Prevention Month Resources
Prevent Child Abuse America Organization
American Psychological Association
World Health Organization