What is 22q11.2 Deletion Syndrome?

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 syndromes affects 1 out of 4000 people and signs and symptoms include, developmental delays, poor muscle tone, learning development, feeding issues and hearing loss.

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

Instructional Teaching Strategies:

Attention Skills Strategies

Spring Fine Motor Activities

Updated 1/7/2021

 

 

What is Cri Du Chat Syndrome?

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 characteristics 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.

Health sites and  that provide information on Cri Du Chat including symptoms, diagnoses, definition and prevalence.

  1. National Institute of Health
  2. Wikipedia
  3. National Human Genome Research Institute
  4. Learn Genetics
  5. Medscape.com

Organizations

  1. International Cri Du Chat
  2. Five P Minus Society

Updated 1/6/2021

Special Needs Children and Circle Time

 

5 ways to increase engagement in morning meetings

31 days of morning circle activities for the child with special needs

Adaptive circle time for children with autism

Circle time activities for a special education classroom

Circle time routine and daily schedule in a pre-k inclusive classroom

Creating and implementing an interactive inclusive circle time

How to run a special education morning meeting

Making a circle time accessible for all students

Making the most of the morning meeting

The importance of circle time for children with special needs

Accommodating Students with Executive Functioning Disorders

 

Classroom accommodations for executive function difficulties– Center on Technology and Disabilities.

Classroom accommodations for executive functioning issues– Understood

Executive Function Disorder and Education– The Beckman School

Executive Function Skills: Accommodations for your child at school- Psychological and Educational Consulting

Executive functioning measurable IEP goals, accommodations and strategies- A Day in Our Shoes

Autism and Meltdown Resources

 

Children with sensory issues including sensory integration disorder, Autism and ADHD may experience a meltdown due to feeling overwhelmed when there is too much sensory information to process.

The following are useful resources to aid in calming:

Blankets- Helps in calming and improving attention and also decreases sensory behaviors by providing deep pressure touch

DIY-  How to make a weighted blanket

Etsy Shop

Mosaic Weighted blankets

Salt of the Earth Gear

Sensa Calm

Sensory Goods

The Magic Blanket

Swings– Will calm a child with autism by organizing and regulating the sensory system.

eSpecial Needs

Fun and Function

Sensory Edge

Sensory Goods

Southpaw

Vest- The weighted vest helps children stay calm and focused by stimulating their muscles through deep pressure.

Autistic Weighted Vest

Fun and Function

Pressure-Vest.com

Therapy Shoppe

Articles

3 ways to deal with autistic children’s meltdowns

5 things about autism meltdowns

10 tips to calm down an autistic child in meltdown

Autism meltdown-management 101: Key points for parents and teachers

Autistic meltdown or temper tantrum?

Fears, anxieties, sensory issues and meltdowns

How to handle the 4 most challenging autism behaviors

Mood instability and meltdowns

The cycle of tantrums, rage and meltdowns

The difference between tantrums and meltdowns (Understood)

What a meltdown feels like for someone with autism (The Mighty)

Why the meltdowns? (Autism Mind)