Early Signs of Rett Syndrome

Rett syndrome is a neurodevelopmental disorder occurring mostly in females in which the child exhibits reduced muscle tone, autistic-like behaviors, stereotyped hand movements consisting of wringing and waving. It is a rare disorder that affects about 1 out of 10,000 children and is the most genetic causes of severe intellectual disability in females. Due to similarities to autism and cerebral palsy, it is often misdiagnosed.

Signs similar to autism include outburst, eye contact avoidance, lack of social reciprocity, sensory issues and loss of speech. Signs of Rett syndrome similar to cerebral palsy include short stature, difficulty with walking, gait movement difficulties and delayed ability to walk.

Typically, children born with Rett syndrome develop normally until the age of 6 and 18 months and reach typical development milestones including eye contact, rolling over and grasping objects. As children grow, motor development begins to slow such as walking and muscle movement. The first signs is usually the loss of muscle tone where the child’s arms and legs appear “floppy.”

Other early signs include:

  • Loss of communication abilities
  • Unusual eye movement
  • Breathing problems
  • Irritable and crying often
  • Intellectual disability
  • Seizures
  • Scoliosis
  • Sleep disturbance
  • Irregular heartbeat
More Resources on Rett Syndrome

Over 30 Online Resources on Rett Syndrome

 

Facts and Statistics- Ataxia

Ataxia is a rare disorder that affects both children and adults. I was quite surprise to find that very little statistics have been conducted on ataxia. this may be due to the understanding that Ataxia is not a specific disorder, rather, a condition can cause ataxia including multiple sclerosis, head trauma, cerebral palsy and infections.

Ataxia affects a child’s coordination, balance and speech while some children are born with ataxia as a result of genetics, others develop it in a progressive matter. Signs and symptoms of Acute Cerebellar Ataxia include:

  • Frequent stumbling
  • Impaired coordination affecting arms or legs
  • Unsteady gait
  • Uncontrolled eye movement
  • Difficulty performing fine motor task
  • headaches

The following are facts and statistics on the Ataxia disorder:

  • It is a degenerative disease of the nervous system
  • Symptoms, often mimic being drunk in adults such as slurred speech
  • Age of symptom can vary from childhood to late adulthood
  • rare recessive genetic disorder
  • occurs between 1 out of 40,000 and 1 out of 100,000
  • The word ataxia refers to clumsiness or a loss of balance and coordination
  • The ataxia gene was first identified in 1993
  • Ataxia is inherited
  • Ataxia is a sign of an underlying disorder
  • It is caused by damage to different areas of the central nervous system
  • The most common symptom in children is an unsteady gait
  • In some cases, ataxia can present itself rapid while in others, it is progressive.
  • The most common cause of acute ataxia in children are excessive drug ingestion and drug intoxications
  • There are from 50 to 100 different types of Ataxia.

Dysgraphia and Workplace Accommodations

Some might be surprised to learn that there are several types of learning disabilities. Dysgraphia is describes as a learning disability that affects writing, spelling and fine motor skills. Dysgraphia is a neurodevelopmental disorder that can occur as a stand alone disorder or part of a co-occurring disorder with other disabilities such as ADHD, Autism, and Dyslexia. Typically it is diagnosed or discovered in the early years when children are beginning to learn how to write. Most adults often remain undiagnosed.

Early Signs of Dysgraphia

Signs and symptoms of dysgraphia generally begin to show up when children began to lean how to write. Early signs of Dysgraphia include:

  • Inconsistent spacing between letters
  • Poor spatial planning
  • Poor spelling
  • Unable to read own handwriting
  • Poor fine motor skills
  • Omitted words
  • Writes slow
  • Pain in hand from writing
  • Messy unorganized papers
  • Difficulty organizing thoughts on paper
  • Illegible printing and cursive letter formation
  • Slopping handwriting
  • Tight, cramped pencil grip
  • Tires quickly when writing
  • mixes upper and lower case or irregular sizes and shapes of letters.

Download a free dysgraphia checklist

Signs and Symptoms in the Workplace

A early signs that rarely disappears is having a “sloppy” handwriting. The person when writing leaves out letters at the end of a sentence, difficulty reading own handwriting after meetings, trouble with filling out routine forms, displays unorganized papers on the desk, difficulty thinking and writing at the same time and tends to mixes upper and lower case letters when writing. The person will also avoid writing when possible and show a preference to using a computer or texting neatness, line spacing, staying inside margins and capitalization rules.

Strategies to Use in the Workplace
  1. If you have a smart phone, you can use the device to record meetings, interviews or instructions that are given to you.
  2. Assitive technology such as tablets, computers and Apps are also useful in transcribing information
  3. Take the time to organize your desk before you leave work in the evening. Prioritize your workflow and create a plan for the next day.
  4. Pre-write. Before you take on the task of writing, create an outline on paper.

Signs and Symptoms of Fetal Alcohol Spectrum Disorders

Fetal Alcohol Spectrum Disorders (FASD) according to the National Organization on Fetal Alcohol Syndrome describes the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These affects may include physical, mental, behavioral, and/or learning disabilities with lifelong implications.

Fetal Alcohol Spectrum Disorders is not a diagnosed rather, it is a term that is used to describe a wide-range of effects on a person whose mother drank alcohol during her pregnancy. Fetal Alcohol Spectrum Disorders, show in three areas: abnormal facial characteristics, slowed growth and the central nervous system.

Fetal Alcohol Spectrum Disorders affects each person differently. Signs and symptoms include the following:

  • Abnormal facial features including a smooth ridge between the nose and upper lip
  • Small head size
  • Shorter than average height
  • Poor coordination
  • Hyperactive behavior
  • Difficulty with attention
  • Poor memory
  • Difficulty in school
  • Learning disabilities
  • Speech and language delays
  • Intellectual disability or low IQ
  • Poor reasoning and judgement skills
  • Sleep and sucking problem
  • vision and hearing problems
  • Seizures
  • Processing information
  • Problems with the heart and kidneys
  • Poor concept of time
  • Trouble getting along with others
  • Staying on task

Aspiration Precautions

Children and adults with developmental disabilities often face challenges with eating, drinking and swallowing disorders than the general population. It is estimated that adults with intellectual disabilities require support from caregivers during mealtime. It is common among people who have a diagnosis of cerebral palsy, intellectual disability, physical  disability and muscular dystrophy.

Dysphasia is a medical term used to describe any person having difficulty swallowing foods and liquids taking  more energy and time to move food from the mouth to the stomach. Signs of dysphasia may include:

  • Drooling
  • Food or liquid remaining in the oral cavity after swallowing
  • Complaints of pain when swallowing
  • Coughing during or right after eating or drinking
  • Extra time needed to chew or swallow
  • Reflux of food

Dysphasia can lead to aspiration. Aspiration is defined when food, fluid, or other foreign material gets into the trachea or lungs instead of going down the esophagus and into the stomach. when this occurs, the person is able to cough to get the food or fluid out of their lungs, in some cases especially with children and adults with disabilities may not be able to cough. This is known as Silent Aspiration.

A complication of aspiration is Pneumonia which is defined as inhaling food, saliva, and liquids into the lungs

According to the Office of People with Developmental Disabilities Health and safety Alert, factors that place people at risk for aspiration include:

  • Being fed by others
  • Weak or absent coughing, and/or gag reflexes, commonly seen in people with cerebral palsy.
  • food stuffing and rapid eating/drinking
  • Poor chewing or swallowing pills
  • GERD- the return of partially digested food or stomach contents to the esophagus
  • Providing liquids or food consistencies the person is not able to tolerate such as eating whole foods.
  • Seizures that may occur during eating and/or drinking.

How to recognize signs and symptoms of Aspiration:

  • Choking or coughing while eating or just after eating
  • Drooling while eating or just after eating
  • Eyes start to water
  • Shortness of breath
  • Fever 30 minutes after eating
Intervene immediate if there are signs of aspiration:
  • Stop feeding immediately
  • Keep the person in an upright position
  • Call 911 if the person has difficulty or stops breathing and no pulse
  • Start rescue breathing

Minimize aspiration from occurring by serving the appropriate food texture and liquid consistency. If you are not sure of the right consistency, check with your health care provider. The following are pictures of food consistencies.

Courtesy of OPWDD

Courtesy of OPWDD

Whole. Food is served as it is normally prepared; no changes are needed in
preparation or consistency

Courtesy of OPWDD

1 ” Pieces cut to size. Food is served as prepared and cut into 1-inch pieces
(about the width of a fork).

Courtesy of OPWDD

1/4 Pieces Cut to Size. Food is cut with a knife or a pizza cutter or placed in a food
processor and cut into ¼ -inch pieces (about the width of a #2 pencil)

Courtesy of OPWDD

Ground. Food must be prepared using a food processor or comparable equipment
until MOIST, COHESIVE AND NO LARGER THAN A GRAIN OF RICE, or relish
like pieces, similar to pickle relish. Ground food must always be moist. Ground meat
is moistened with a liquid either before or after being prepared in the food processor
and is ALWAYS served with a moistener such as broth, low fat sauce, gravy or
appropriate condiment. Hard, dry ground particles are easy to inhale and must be
avoided.

 

Courtesy of OPWDD

Pureed. Food must be prepared using a food processor or comparable equipment.
All foods are moistened and processed until smooth, achieving an applesauce-like or
pudding consistency. A spoon should NOT stand up in the food, but the consistency
should not be runny. Each food item is to be pureed separately, unless foods are
prepared in a mixture such as a soup, stew, casserole, or salad.

Aspiration Precautions

  • Make sure the person eats slowly and takes small bites of food
  •  Ensure the person takes small sips of liquids
  • Focus on the person’s swallowing
  • Make sure the person remains upright for a minimum of thirty minutes after eating

Cystic Fibrosis Awareness Month

According to the Cystic Fibrosis Foundation, cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe overtime. It is a life-threatening disorder that damages the lungs and digestive system. A thick mucus can block the lungs and the pancreas.

In the United States, about 30,000 people are affected by the disease. It is estimated that more than 70,000 people worldwide are living with cystic fibrosis. 1 in every 20 Americans is an unaffected carrier of an abnormal CE gene.

Wikipedia

Common symptoms of cystic fibrosis include:

  • Salty-tasting skin
  • Persistent coughing
  • Shortness of breath
  • Wheezing
  • Poor weight gain in spite of excessive appetite
  • Greasy, bulky stools
  • Repeated lung infections
  • Muscle and joint pain
  • Sinus infections.

Cystic Fibrosis does not affect any cognitive or learning abilities. However, the student may need modifications and supports due to the disease. Teachers with students with cystic fibrosis should be knowledgeable about the disease.

15 Facts About Cri Du Chat Syndrome

Cri-Du Chat (cat’s cry) is a rare genetic disorder that results when a piece of the 5p chromosome is deleted. The name is French for “cry of the cat,” referring to the high-pitched cat-life cry. Other characteristics include intellectual disability, hyperactivity, and delay development. below are some more facts on this rare disease.

Click here to download PDF article

  • Cri du Chat is French for cat’s cry or crying cat
  • The syndrome gets its name from the infant cry which is similar to a meowing kitten
  • The cry is due to issues with the larynx and nervous system
  • About one third of children lose the cry by the age of 2 years.
  • It is also known as 5p- (5p minus)
  • The size of the deletion varies among affected individuals
  • Cri du chat syndrome is not inherited.
  • About 10 percent of people with cri du chat syndrome inherit it from an unaffected parent.
  • Is a chromosomal condition that results when a piece of chromosome 5 is missing
  • People diagnosed with cri du chat tend to have distinctive facial features
  • Occurs in an estimated 1 in 20,000 to 50,000 newborns
  • Cri du chat is found in  people of all ethnic backgrounds
  • It was first described by Jerome Lejeune in 1963
  • It is more common in females by a 4.3 ratio
  • It is a rare genetic disorder
  • In some cases, cri du chat syndrome may go undiagnosed
  • Children born with cri du chat syndrome are more likely to have developmental delays
  • The symptoms of cri du chat vary from person to person
  • Both children and adults with cri du chat are often seen as cheerful and friendly.

 

References

Genetic and Rare Diseases Information Center

National Organizations of Rare Diseases

Williams Syndrome- Facts and Statistics

Click here to download PDF article

May is Williams Syndrome Awareness Month. It is a rare genetic condition that affects over 1 in 10,000 people worldwide. If you teach in a special needs classroom or work in an adult day habilitation program, it is likely you have experienced working and teaching a student or individual diagnosed with Williams Syndrome. Below you will find some interesting facts and statistics on the disorder:

  • It is a genetic condition that is present a birth.
  • It is a developmental disorder
  • Tend to have a mild or moderate intellectual disability.
  • It is also known as Beuren Syndrome and Williams-Beuren Syndrome.
  • The symptoms were first described by John C.P. Williams in 1961.
  • A year later, German Physician, A.J. Beuren described three new incidents of patients with similar facial features.
  • It is caused by the spontaneous deletion of 26-28 genes on Chromosome #7
  • The deletion is caused by either the sperm or the egg.
  • The deletion is present at the time of conception
  • The most common symptoms of Williams Syndrome includes unusual facial features and heart defects.
  • The diagnosis is typically confirmed after identifying facial features and genetic testing.
  • An individual with Williams Syndrome has a 50% chance of passing the disorder on to their children.
  • Williams Syndrome affects 1 in 10,000 people worldwide.
  • An estimated 20,000 to 30,000 people in the United States are affected.
  • It occurs in both males and females equally
  • It is found in every culture
  • Individuals with Williams Syndrome tend to be overly friendly.
  • People with Williams Syndrome often have difficulty with visual-spatial tasks
  • Congenital heart defects (CHD) occur in approximately 75 percent of children
  • By the age of 30, the majority of individuals with Williams Syndrome have pre-diabetes or diabetes.

 

 

References

Genetics Home Reference

National Organizations for Rare Diseases

William Syndrome Association

25 Developmental Disability Links and Resources You Should Know About

March is Developmental Disabilities Awareness month! Although I blogged  the definition of developmental disabilities here, I wanted to give you more information besides the Federal regulation. Quite often, people are confused between the definition of an intellectual disability and a developmental disability.

A developmental disability is described as an assortment of chronic conditions that are due to mental or physical impairments or both. For example, you may have a child or an adult with an intellectual disability or perhaps a person diagnosed with cerebral palsy and an intellectual disability. It is also considered a severe and chronic disability that can occur up to the age of 22, hence the word developmental. A developmental disability can occur before birth such as genetic disorders (i.e. cri du chat, fragile x syndrome,) or chromosomes ( i.e. Down syndrome, Edwards syndrome); during birth (lack of oxygen) or after birth up to the age of 22 (i.e. head injuries, child abuse or accidents).

The disability is likely to occur indefinitely meaning the person will require some type of ongoing service throughout their lives. Finally, the person must show limitations in 3 or more of the following areas of major life activities:

  1. Self-care– brushing teeth, hand-washing and combing hair independently
  2. Receptive and expressive language-ability to understand someone talking and to also be understood
  3. Learning– ability to read and write with understanding
  4. Mobility-ability to move around without any assistance
  5. Self-direction– time management, organization
  6. Capacity for independent living– requiring no supervision
  7. Economic self-sufficiency – having a job  and purchasing what one needs

The following are links to articles on various types of developmental disabilities including resources with facts and statistics, organizations, and sign and symptoms.

22q11.2 Deletion Syndrome

27 things to know about Fragile X Syndrome

ADHD- facts and statistics

Angelman Syndrome

Angelman syndrome resources

Cri Du Chat Resources

Developmental disability acronyms you should know 

Developmental disability awareness ribbons

Down syndrome-facts and statistics

Down syndrome timeline

Duchenne Muscular Dystrophy

Early Intervention- Resources and Information

Edward Syndrome Resources

Global developmental delays

Intellectual Disability Resources

Over 30 online resources on Rett syndrome

Pervasive DD-NOS

Prader Willi Syndrome Resources

Resources for teaching students with Down syndrome

Ring Chromosome 22 Resources

Teaching self-regulation and autism spectrum disorder

Things to know about Angelman Syndrome

Turner Syndrome Characteristics

What is Prader Willi Syndrome?

William-Beuren Syndrome Resources

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.

Click here to download PDF version

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