What is 22q11.2 Deletion Syndrome?

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22q11.2 deletion syndrome, is a rare disorder that is caused by a deletion in chromosome 22 located specifically in the middle of the chromosome in the area referred to as 22q11.2. This syndrome affects 1 out of 4000 people and signs and symptoms include, developmental delays, poor muscle tone, learning development, feeding issues and hearing loss.

Causes

22q11.2 is caused by genes missing from the chromosome 22. the chromosome is responsible for the protein production and maintains the body functions. Missing portions of Chromosome 22 can have an impact on every system in the human body including the heart, immune system and kidney abnormalities.

Similar Names

  • Cayer Cardiofacial Syndrome
  • Conotruncal Anomaly Face Syndrome(CTAF)
  • DiGeorge Syndrome (DGS)
  • Microdeletion 22q11.2
  • Monosomy 22q.11
  • Opitz G/BBB Syndrome
  • Sedlackova Syndrome
  • Shprintzen Syndrome
  • Takao Syndrome
  • Velo-Cardio-Facial Syndrome (VCFS)

History

  • 1955- First appear in medical literature by Dr. Eva Sedlackova who described a number of cases of children with hypernasal speech and reduced facial animations.
  • 1965- Dr. Angelo DiGeorge described congenital absence of the thymus gland in 4 patients.
  • 1968- Dr William Strong reported an association of cardiac abnormalities.
  • 1981- Dr. Shimizu of Japan noticed similarities between patients diagnosed with CTAF and DiGeorge Syndrome
  • 1982- Dr’s Richard Kelley, Elaine Zacker and Beverly Emanuel at the Children’s Hospital in Philadelphia discovered that some patients had a rearrangement of chromosome 22 thus causing a piece of the long arm (q11.2) to be missing

Associated Conditions

  • cardiac anomalies
  • cleft palate
  • kidney abnormalities
  • language delays
  • learning challenges
  • developmental delays
  • feeding disorders
  • autism
  • ADHD
Learning Challenges Include:
  • Poor Working and short-term memory
  • Difficulty with math reasoning
  • Difficulty with reading comprehension
  • Fine motor and perceptional skills

 

Updated on 7/25/24

 

 

Signs of Autism Spectrum Disorder in Children with Down Syndrome

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Signs and symptoms of Down syndrome is fairly easy to detect especially since there are specific physical characteristics of the disorder. But what if there is also a diagnosis of autism?

Studies show that 5 to 39% of children with Down syndrome are also on the autism spectrum. There are overlaps in some of the symptoms which delays the signs and symptoms of autism. This observation is slowly growing and informing parents and educators  to observe for specific signs and symptoms.

It is possible that educators and therapist may be the first to notice that children with Down syndrome also display characteristics that are similar to autism.

Why is it important?

According to authors Margaret Froehlke and Robin Zaborek from the book, When Down Syndrome and Autism Intersect, The education approach in both Down syndrome and autism will be different than for children with a single diagnosis of Down syndrome including accommodations and writing the IEP. Teaching strategies will also differ. Teaching a student with Down syndrome who require tactile demonstrations, simple directions, and immediate feedback will now require concrete language, social stories, the use of few choices and the use of concrete language.

The importance of getting the diagnosis
Most often children with Down syndrome are treated for the characteristics of having Down syndrome which overlooks giving children the appropriate treatment for Autism such as social skills and sensory issues. A child or young adult with both diagnoses will likely experience aggressive behaviors, meltdowns, and show signs of regression during their early development. The following are signs and symptoms to look for in your child, or student:
  • Hand flapping
  • Picky eater
  • Echolalia
  • Fascination with lights
  • Staring at ceiling fans
  • History of regression
  • Head banging
  • Strange vocalization
  • Anxiety
  • Seizure Disorder

Signs of overlap include:

  1. Receptive motor behavior
  2. receptive language challenges
  3. picky eater
  4. increase anxiety
  5. self-injurious
  6. sensory sensitivities

 

As the student gets older, there may be ongoing issues with sensory disorders and transitions leading to meltdowns

Reference

When Down Syndrome and Autism Intersect: A Guide to DS-ASD for
Parents and Professionals
By Margaret Froehlke, R. N. & Robin Zaborek, Woodbine House, 218 pp.

Updated on 7/17/24

Developmental Disability Awareness Ribbons

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Awareness ribbons in recent history began when Penney Laingen used the ribbon as a symbol of vigilance (from the song, Tie a Ribbon Around the Ole Oak Tree) when she tied a yellow ribbon around the oak tree in her front yard when her husband, Bruce Laingen. a top-ranking U.S. diplomat was a hostage during the Iran hostage crisis in 1979. This was followed by the red ribbon during the AIDS epidemic and the pink ribbon bringing awareness to breast cancer.

Ribbons have long been used as a way to bring awareness and raise consciousness for a cause. Ribbons and disability awareness have evolved from bringing awareness to various disability topics such as sensitivity, inclusion and advocacy to including various formats. People are using social media as a means to promote awareness including using hashtags and setting up Facebook pages specifically for disability awareness.

Disability awareness and acceptance is being done through the use of awareness ribbons.

The Ribbons below focus on ribbons that bring awareness to developmental disability and special needs issues.  including individuals with neurodevelopmental and intellectual disabilities. Awareness is only a part of educating and training people on disability awareness. Training activities should also include acceptance and understanding.

Awareness Ribbons

Autism Spectrum Disorder- The Autism ribbon continues to evolve overtime. The puzzle piece was first used in 1963 by a parent and board member of the National Autistic Society in London indicating the puzzling, confusing nature of autism. In 1999, the puzzle piece ribbon was adopted as the universal sign of autism awareness by the Autism Society reflecting the complexity of the autism spectrum. Overtime, the both the puzzle and ribbon have become a symbol for seeing autism as something that is puzzling an needs to be fixed rather than acceptance. A more positive symbol includes the infinity loop used as a symbol for acceptance rather than awareness.

Angelman Syndrome- Blue

Apraxia- Light Blue

Attention Deficit Hyperactivity (ADHD)- Orange

Cerebral Palsy- Green

Cri Du Chat- Blue

Developmental Disabilities- Silver or light blue

Di George Syndrome- Teal

Down Syndrome- Blue and Yellow

Dravet Syndrome- Purple

Duchenne Muscular Dystrophy- Light Green

Epilepsy- Purple

Fetal Alcohol Syndrome Disorder- Silver and Blue

Fragile X Syndrome- Teal

Hydrocephalus- Light Blue

Prader Willi- Orange

Rare Disease- Zebra Stripe

Rett Syndrome- Purple

Sensory Processing Disorder- Blue or Orange

Sickle Cell Anemia- Burgundy

Spina Bifida- Yellow

Spinal Cord Injuries- Green

Tourette Syndrome- Teal

Trisomy 18- Light Blue

Turner Syndrome Purple Butterfly

Williams Syndrome- Burgundy

 

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Burgundy Awareness Ribbon

  • Sickle Cell Anemia
  • Williams Syndrome

 

Blue Awareness Ribbon

  • Angelman Syndrome
  • Cri Du Chat

Green Awareness Ribbon

  • Cerebral Palsy
  • Spinal Cord Injuries

Light Blue Awareness Ribbon

  • Apraxia
  • Developmental Disabilities
  • Hydrocephalus
  • Intellectual Disabilities
  • Trisomy 18

Orange Awareness Ribbon

  • Attention Deficit Hyperactivity Disorder (ADHD)
  • Prader Willi Syndrome
  • Sensory Processing Disorder

Teal Awareness Ribbon

  • Fragile X Syndrome
  • DiGeorge Syndrome
  • Tourettte Syndrome

 

 

 

Purple Awareness Ribbon

  • Dravet Syndrome
  • Epilepsy
  • Rett Syndrome
  • Turner Syndrome

Blue and Yellow Awareness Ribbon

  • Down Syndrome

Light Green Awareness Ribbon

  • Duchenne Muscular Dystrophy

 

Silver and Blue Awareness Ribbon

  • Fetal Alcohol Syndrome Disorder

Yellow Awareness Ribbon

  • Spina Bifida

Observance and Awareness Month

February

Turner Syndrome Awareness

March

Trisomy18

Kidney Awareness

Multiple Sclerosis

Cerebral Palsy

Developmental Disabilities

April

Autism

Auditory Processing Disorder

May

Apraxia

Cri Du Chat

Cystic Fibrosis

Global Developmental Delay

Williams Syndrome

June

Aphasia

CDKL5

Dravet Syndrome Day

Helen Keller- Deaf- Blind

July

Fragile X Syndrome

National Craniofacial Awareness and Prevention Month

September

Duchenne Muscular Dystrophy

Fetal Alcohol

Hydrocephalus

Sickle Cell Anemia

Spinal Cord Injuries

October

ADD/ADHD

Down Syndrome

Dyslexia

Rett Syndrome

Sensory Processing Disorder

November

22Q

Epilepsy

Lennox-Gastaut

December

West Syndrome (Infantile Spasm)

Updated on 7/15/24

Teaching Students with Feeding Tubes: What You Need To Know

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If you work in a special education class or a day habilitation setting, more than likely you are teaching a student or an individual with complex needs including the use of a feeding tube.

According to the Tube Feeding Awareness Foundation, there are over 300 conditions that require students and individuals to receive nutritional support through tube feeding.

What is a feeding tube?

A feeding tube is a device that is inserted in the stomach wall and goes directly into the stomach. It bypasses chewing and swallowing in a student or individual who no longer has the ability to safely eat or drink. This allows for students and individuals to receive adequate nutritional support.

A feeding tube is also used for students and adults who cannot take in enough food by mouth. Feeding tubes can be temporary or permanent .

Reasons to use a feeding tube
The student or individual may have a swallowing disorder or dysphasia. This means there is an increase risk for the student or individual to aspirate their foods or liquids into their lungs. Causes of swallowing problems include low-muscle tone, brain injury, genetic conditions, sensory issues, neurological conditions, cleft lip/palate and birth defects of the esophagus or stomach.
Types of Feeding Tubes

Gatro Feeding Tube

The gastrostomy tube (G tube) is placed through the skin into the stomach. The stomach and the skin usually heal in 5-7 days. This type of tube is generally used in people with developmental disabilities for long term feeding.

Nasogastric Feeding Tube

The nasogastric (NG tube)  is inserted through the nose, into the swallowing tube and into the stomach. The NG tube is typically used in the hospital to drain fluid from the stomach for short term tube feeding.

Neurological and Genetic Conditions Requiring Tube Feeding

Some students and individuals with neurological and genetic conditions often require tube feeding due to gastrointestinal issues including constipation, reflux, and abnormal food-related behaviors. It For example, it is estimate that 11% of children with cerebral palsy use a feeding tube due to difficulty with eating, swallowing, and drinking.

The following are different types of neurological or genetic conditions that may require the use of a feeding tube.

22q11.2 Deletion Syndrome

Angelman Syndrome

Aspiration

Cerebral Palsy

CDKL5 Disorder

Cornelia de Lange

Cri Du Chat Syndrome

Down Syndrome

Dravet Syndrome

Dysphasia

Edwards Syndrome

Fetal Alcohol Syndrome

Fragile X Syndrome

Hydrocephalus

Lennox-Gestaut Syndrome

Microcephaly

Ohtahara Syndrome

PPD- Not Otherwise Specified

Turner Syndrome

Trisomy 18

Spastic Diplegia

Traumatic Brain Injury

West Syndrome

Williams Syndrome

 

Signs and Symptoms of Issues related to a g-tube

Complications due to tube feeding may include:

  • constipation
  • dehydration
  • diarrhea
  • infections
  • nausea/vomiting

Aspiration

Aspiration can be caused by:

  • reflux of stomach contents up into the throat
  • weak cough, or gag reflux
  • the feeding tube is not in place
  • delayed stomach emptying
  • The head is not raised properly.

Students should be observed for aspiration during feeding. The following are signs and symptoms of aspiration:

  1. Choking or coughing while feeding
  2. Stopping breathing while feeding
  3. Faster breathing while feeding
  4. Increased blood pressure, heart rate and decreased oxygen saturation.

 

What is Tourette Syndrome?

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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 ranges 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.

There are three types:

  1. Motor tics cause a movement including eye blinking, facial grimacing, jaw movements, and head bobbing
  2. Vocal/phonic tics produce a sound including throat clearing, grunting, hooting, and shouting
  3. Provisional tic disorders involve a person who experiences involuntary motor and/or verbal tics for one year.

Signs and Symptoms:

Tic Disorders:

  • eye blinking
  • coughing
  • throat clearing
  • sniffing
  • facial movement
  • shoulder shrugging

Vocal Tics:

  • barking or yelping
  • grunting
  • repeating what someone else says
  • shouting
  • sniffing
  • swearing

Co-Occurring Disorders Include:

  • Attention Deficit/Hyperactivity Disorder (ADHD)
  • Obsessive -Compulsive Disorder
  • Learning difficulties
  • Behavior problems
  • Anxiety
  • Mood problems
  • Sleeping issues
  • Social skills and deficits

Risk Factors

  • Temperamental- it is worsened by anxiety, excitement and exhaustion.
  • Environmental- observing a gesture or sound in another person my result in an individual with a tic disorder making a similar sound.
  • Genetic- genetics and environmental factor influences tic symptoms.

Updated on 7/6/24

What is Cerebral Palsy?

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What is Cerebral Palsy?

Cerebral Palsy is a collection of motor disorders resulting from damage to the brain that can occur before, during and after birth. Congenital cerebral palsy indicates that a person developed cerebral palsy at birth which is the case of the majority of people with cerebral palsy. According to the Centers for Disease Control and Prevention (CDC), Cerebral Palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. It is the most common motor disability in childhood. It is estimated that an average of 1 in 345 children in the U.S. have cerebral palsy. For many years, it was thought cerebral palsy was due to lack of oxygen. Studies show this only accounts for 19% of all cases.

Prevalence and Characteristics

  • Around 764,000 people in the United States have at least one symptom of cerebral palsy
  • Around 10,000 babies are born each year with cerebral palsy
  • Boys are diagnosed more often than girls
  • Cerebral palsy is the most commonly diagnosed childhood motor disability in the United States
  • Over 77% of children with cerebral palsy have the spastic form
  • More than 50% of all children with cerebral palsy can walk independently
  • African American children with cerebral palsy are 1.7 times more likely to need assistance with walking or be unable to walk at all
  • Around 41% of babies and children with cerebral palsy will have limited abilities in crawling, walking and running.
  • Around 41% children with cerebral palsy in the United States have some form of a cognitive disorder
  • Behavior problems are common in children with cerebral palsy including social skills and anger issues.
  • Seizures are a common associate disorder of cerebral palsy and can range from mild to extreme severe.
  • There is no known cure

What Causes Cerebral Palsy?

Studies show that about 10 to 20 percent of children with cerebral palsy acquire the disorder after birth. This includes through infections, jaundice, RH incompatibility and severe oxygen shortage in the brain.

Types of Cerebral Palsy

Ataxic- indicates the muscle tone is too low or too loose

  • affects 5 to 10 percent of people with cerebral palsy
  • movements are unsteady and shaking
  • have difficulty making quick movements

Spastic- refers to the inability of muscle to relax

  • is the most common type of cerebral palsy
  • 70-80% of people have spastic cerebral palsy
  • will have difficulty moving from one position to another

Athetoid-uncontrolled twisting movements

  • Affects 10 to 20% of people with cerebral palsy
  • often have difficulty holding themselves in an upright position
  • muscles move involuntarily causing limbs to twitch

Classifications

Hemiplegia- The inability to move the arm and leg on one side of the body.

Diplegia-The inability to move either both arms or both legs.

Quadriplegia- A type of cerebral palsy that affects all limbs on both sides of the body

Monoplegia- A type of cerebral palsy that affects only one limb.

 Sign and Symptoms

  • Stiff muscles and exaggerated reflexes (spasticity)
  • Stiff muscles with normal reflexes (rigidity)
  • Lack of muscle coordination (ataxia)
  • Tremors or involuntary movements
  • Delays in reaching motor skills milestones
  • Excessive drooling or problems with swallowing
  • Delays in speech development or difficulty speaking

Treatment

There is no cure for cerebral palsy but can be managed through

Physical Therapy

Occupational Therapy

Speech Therapy

Counseling and behavioral therapy

Drugs

Braces and orthotic devices

Communication devices

Updated on 7/5/24

What is Cri Du Chat Syndrome?

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Cri-Du Chat, French for cry of the cat is a rare genetic disorder that occurs when there is a total or short deletion in the short arm of Chromosome 5. This portion of the chromosome is responsible for intellectual disability while the region of 5p15.3 is associated with speech delays and the high-pitched cat cry.  The high pitch cry is similar to the sound of a cat mewing which generally disappears after a few months or years in some cases. It is believed this is due to laryngeal alterations.

Although cri du chat is a rare syndrome, it is considered one of the most common syndromes in children and adults. There is an incidence of 1 in 50,000 live births and affects all ethnic and racial backgrounds.

Signs and Symptoms

Physical signs and symptoms include:

  • microcephaly
  • large nasal bridge
  • down-turned corners of the month
  • low-set ears

Other signs and symptoms include:

  • Intellectual disability
  • Hypertonia
  • Global and developmental delays
  • Speech and communication delays
  • Behavior challenges
  • Hypersensitivity.

Early Development

Studies show that in early development, during the first two years, children display issues with dysphasia, muscle hypotonia, and gastroesophageal and nasal reflux. Other early issues include recurrent respiratory infections and psychomotor issues.

Intellectual Disability

An intellectual disability is defined by the ICD-9 as a disorder with onset during the development period including both intellectual and adaptive functioning deficits. People with cri du chat typically fall under the moderate and severe range requiring personal care involving eating, dressing, and hygiene as well as self-care and monitored for self-injury.

Behavior Challenges

Behavior challenges among children and adults with cri du chat include aggressive and self-injurious behavior as well as hyperactivity. A study conducted by Cornish and Pigram (1996) found that there was one characteristic that occurred in more than 75% of the group and none characteristics that occurred in more than 50% of the group including hypersensitivity, to sensory stimuli, self0injurious behavior, repetitive movements, stubbornness and object attachment.

 

 

Updated on 7/4/24

Cerebral Palsy and Secondary Issues

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Cerebral palsy affects people differently including; learning disabilities, intellectual disabilities, behavioral challenges, attention deficit hyperactivity disorder (ADHD), and Executive Function Disorder. People with cerebral palsy often have medical issues as well including, epilepsy, hydrocephalus, swallowing difficulties, vision problems, aspiration and constipation.

Seizures
  • a seizure is a sudden, out of control event that can cause involuntary movement.
  • It occurs when there are bursts of abnormal electrical activity in the brain which interferes with normal brain functioning.
  • The brain constantly sends unusual electrical messages very close together.
  • Inform the participants that seizures are the most common of associated problems.
  • Experts believe that seizures are the result of scarred tissue in the brain.
  • About 50% of people with cerebral palsy suffer from seizures.
  • Epilepsy is more common in the child with spastic quadriplegic
  • Complex partial seizures are the most common in people with cerebral palsy
  • in most cases, it is unknown the cause of seizures.

Cases which the cause is known include

  • Serious brain injury
  • Lack of oxygen
  • Bleeding in the brain
  • Infection in the brain including meningitis and encephalitis
  • Inflammation of the brain
  • Co-occurring conditions that involve an intellectual or developmental disabilities

Treating Seizures

  • Try to keep calm and make sure the person having the seizure is comfortable and safe from harm.
  • A seizure can last from a second or several minutes

Do Not:

  • Do not hold the person down or try to stop his or her movements.
  • Do not put anything in the person’s mouth. This can injure teeth or the jaw. A person having a seizure cannot swallow his or her tongue.
  • Do not try to give mouth-to-mouth breaths (CPR). People usually start breathing again on their own after a seizure.
  • Do not offer the person water or food until he or she is fully alert.

After the seizure:

  • After the seizure ends, the person will probably be groggy and tired. He or she also may have a headache and be confused or embarrassed. Try to help the person find a place to rest.
Vision Issues
  • The term blindness refers to complete impairment of vision
  • Visual impairment refers to diminished vison or low vision but not total blindness.
  • A person’s right side may include problems with muscles that control the right eye making it difficult for the affected eye to move from side to side.
  • People may appear to be crossed eyes.
  • Explain that people with cerebral palsy may have a condition called strabismus, where eyes do not line up and focus properly because of differences between the left and right eye muscles
  • May only impact one eye which happens to those whose cerebral palsy affect one side of the body.
Learning Disability
  • People with cerebral palsy may have a short attention span, motor difficulties, perceptual difficulties and language difficulties
  • This can impact literacy, numeracy and other important skills.
  • Learning disabilities may also affect fine and gross motor coordination
  • They may tire easily since they have to put more effort into concentrating on their movements and sequence of actions.
ADHD
  • A disorder of the executive function of the brain that allows a person to focus and organize
  • It is a developmental disability that occurs in approximately 3 to 5% of children
  • 19% of children with cerebral palsy will be diagnosed with ADHD
Hydrocephalus 
  • Enlargement of the fluid filled spaces in and around the brain known as ventricles
  • To correct the damaging effects, the fluid build-up is performed involving a shunt
Behavior Challenges
  • Children and adults with cerebral palsy may be more prone to having problems controlling their impulses as well as having difficulty with focus and attention
Hearing Loss
  • Birth injuries can cause partial or complete loss of vision and or hearing in many individuals
  • Possible result of physical damage to the ear due to inflammation of built-up
  • Senorineural hearing loss- nerves that transmit sound information from the outside world to the brain are damaged
Tube Feeding
  • Gastrostomy is used with children with significant eating, drinking and swallowing difficulties to ensure they received enough food and drink.
  • It is surgically placed through the abdominal wall to feed formula, liquids and medication directly to the stomach.
Intellectual Disability
  • Approximately 2/3 of people with cerebral palsy have an intellectual disability
  • 1/3 have Mild
  • 1/3- Moderate
  • 1/3- Normal IQ
  • Children with spastic quadriplegia are more likely to have an intellectual disability

Updated on 7/4/24

Mosaic Down Syndrome

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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 7/3/24

Landau-Kleffner Syndrome

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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.

 

Updated on 7/2/24