Promising UCLA program “PEERS” to Improve Social Skills in Preschoolers, Adolescents, and Young Adults (Autism, ADHD, anxiety, depression, and other socioemotional problems.

peers

UCLA PEERS ® CLINIC

The Program for the Education and Enrichment of Relational Skills (PEERS®) was originally developed at UCLA by Dr. Elizabeth Laugeson, Founder and Director of the UCLA PEERS® Clinic, and Dr. Fred Frankel in 2005 and has expanded to locations across the United States and the world. PEERS® is a manualized, social skills training intervention for youth with social challenges. It has a strong evidence-base for use with adolescents and young adults with an autism spectrum disorder but is also appropriate for preschoolers, adolescents, and young adults with ADHD, anxiety, depression, and other socioemotional problems.

SERVICES:
  • PEERS® for Adolescents: We offer a 16-week evidence-based social skills intervention for motivated adolescents in middle school or high school who are interested in learning ways to help them make and keep friends. For more information, please visit the PEERS® for Adolescents section.
  • PEERS® for Young Adults: We offer a 16-week evidence-based social skills intervention for motivated young adults (18-35 years old) who are interested in learning ways to help them make and keep friends, and to develop romantic relationships. For more information, please visit the PEERS® for Young Adults section.
  • PEERS® for Preschoolers: We offer a 16-week evidence-based social skills intervention for children diagnosed with Autism Spectrum Disorder between 4 to 6 years of age who have difficulty in their peer interactions and friendships. For more information, please visit the PEERS® for Preschoolers section.

Director: Elizabeth Laugeson, Psy.D.

Site: Semel Institute/NPI

PODCAST-

RESOURCES

From the Director Dr. Laugeson-

 

 Role play videos for social skills.

Conversational Skills

  Trading Information (Example 1)
  Trading Information (Example 2)
  Don’t be a conversation hog
  Don’t be an interviewer
  Don’t get too personal at first
  Don’t police
  Don’t tease
  Don’t be argumentative
  Don’t brag
  Use good volume control (bad example: too loud)
  Use good volume control (bad example: too quiet)
  Use good body boundaries (bad example: too close)
  Use good body boundaries (bad example: too far away)
  Use good eye contact (bad example: no eye contact)
  Use good eye contact (bad example: staring)

Starting Individual Conversations

  Starting an individual conversation (bad example)
  Starting an individual conversation (good example)

Entering Group Conversations

  Entering a group conversation (bad example)
  Entering a group conversation (good example)

Exiting Conversations

  Exiting when never accepted (bad example)
  Exiting when never accepted (good example)
  Exiting when initially accepted and then excluded (good example)
  Exiting when fully accepted (bad example)
  Exiting when fully accepted (good example)

Electronic Communication

  Exchanging contact information (bad example)
  Exchanging contact information (good example)
  Beginning phone calls (bad example)
  Beginning phone calls (good example)
  Ending phone calls (bad example)
  Ending phone calls (good example)
  Leaving voicemail (bad example)
  Leaving voicemail (good example)

Appropriate Use of Humor

  Giving a courtesy laugh (bad example)
  Giving a courtesy laugh (good example)
  Pay attention to your humor feedback (laughing with) 1
  Pay attention to your humor feedback (laughing with) 2
  Pay attention to your humor feedback (laughing with) 3
  Pay attention to your humor feedback (laughing with) 4
  Pay attention to your humor feedback (laughing with) 5
  Pay attention to your humor feedback (laughing with) 6

Appropriate Use of Humor

  Pay attention to your humor feedback (laughing with) 7
  Pay attention to your humor feedback (laughing with) 8
  Pay attention to your humor feedback (laughing with) 9
  Pay attention to your humor feedback (laughing with) 10
  Pay attention to your humor feedback (laughing at) 1
  Pay attention to your humor feedback (laughing at) 2
  Pay attention to your humor feedback (laughing at) 3
  Pay attention to your humor feedback (laughing at) 4
  Pay attention to your humor feedback (laughing at) 5
  Pay attention to your humor feedback (laughing at) 6
  Pay attention to your humor feedback (laughing at) 7
  Pay attention to your humor feedback (laughing at) 8
  Pay attention to your humor feedback (laughing at) 9
  Pay attention to your humor feedback (laughing at) 10

Good Sportsmanship

  Don’t cheat
  Don’t be a referee
  Don’t be a coach
  Don’t be competitive
  Help and show concern if someone is injured
  Suggest a change if bored
  Don’t be a bad winner
  Don’t be a sore loser
  Being a good sport (good example)

Get-Togethers

  Beginning a get-together (bad example)
  Beginning a get-together (good example)
  Ending a get-together (bad example)
  Ending a get-together (good example)

Handling Arguments

  Responding to a disagreement (keep cool, listen)
  Responding to a disagreement (keep cool, listen, repeat)
  Responding to a disagreement (keep cool, listen, repeat, explain)
  Responding to a disagreement (keep cool, listen, repeat, explain, say sorry)
  Responding to a disagreement (keep cool, listen, repeat, explain, say sorry, solve the problem)
  Bringing up a disagreement (wait, keep cool, ask to speak privately)
  Bringing up a disagreement (wait, keep cool, ask to speak privately, explain)
  Bringing up a disagreement (wait, keep cool, ask to speak privately, explain, listen)
  Bringing up a disagreement (wait, keep cool, ask to speak privately, explain, listen, repeat)
  Bringing up a disagreement (wait, keep cool, ask to speak privately, explain, listen, repeat, tell them what you need)
  Bringing up a disagreement (wait, keep cool, ask to speak privately, explain, listen, repeat, tell them what you need, solve the problem)

Handling Teasing

  Handling teasing (male example)
  Handling teasing (female example)

Handling Rumors and Gossip

  Spread the rumor about yourself (bad example)
  Spread the rumor about yourself (good example)

Dating Etiquette

  Talking to a mutual friend
  Flirting with your eyes (bad example)
  Flirting with your eyes (good example)
  Ask them if they’re dating anyone (bad example)
  Ask them if they’re dating anyone (good example)
  Giving compliments (bad example)
  Giving compliments (good example)
  Asking someone on a date (bad example)
  Asking someone on a date (good example)
  Accepting rejection (bad example)
  Accepting rejection (good example)
  Turning someone down (bad example)
  Turning someone down (good example)
  Beginning a date (bad example)
  Beginning a date (good example)
  Two offer rule
  Ending a date (bad example)
  Ending a date (good example)
  Handling sexual pressure from a partner (bad example)
  Handling sexual pressure from partners (good example)
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The Best English Language Learner Resource “Colorin Colorado!”

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Colorin Colorado!

Learning a second language can be difficult on its own. Pair language acquisition with learning in school and it can be downright frustrating to students and families. Colorín Colorado is the premier national website serving educators and families of English language learners (ELLs) in Grades PreK-12. Colorín Colorado has been providing free research-based information, activities, and advice to parents, schools, and communities around the country for more than a decade.

Link- Colorin Colorado

 

 

Skill-Based Assessments from the Northeast Educational Services Cooperative (NESC)

strategies-for-routines

Skill-Based Assessments

Adaptive Behavior
Adaptive Behavior Functional Checklist
Adaptive Functioning Skills (5 to 10) (11+)
Life Skills Checklist by Christine Fields (4 to 7) (8 to 12) (13 to 15) (16 to 18)
School and Community Social Skills Rating Checklist
Systematic Adaptive Behavior Characteristics Checklist (Birth to 5) (6 to 13) (14 to 21)
Systematic Observations for Adaptive Behavior (Birth to 5) (6 to 13) (14 to 21)
Transition Skills Guidelines (for Students with Hearing Loss)

Autism Spectrum
Autism Team Questions (Elementary) (MS to HS)
Behavior and Communication Questionnaire
Challenging Behaviors for an ASD Student
Dyssemia Rating Scale (DRS) – School Screening
M-CHAT
Moving Toward Functional Social Competence
Vocational Evaluation Checklist for an Individual with Autism

Behavior
Behavior Checklist
Behavior Input Form (Parent) (Teacher)
Informal Behavior Assessment
Organizational and Independent Skills (Instructions) (PK/K) (Elem) (MS/HS)
PRIM-3 Behavior Checklist
Skill-Based Behavior Rating Scale

Early Childhood
Child Skills Checklist
Developmental Checklist (1 to 3 months) (4 to 7 months) (8 to 12 months) (12 to 24 months)
Developmental Checklist (2 to 3 years) (3 to 4 years) (4 to 5 years)
Developmental Milestones (12 months) (18 months) (Age 2) (Age 3) (Age 4) (Age 5)
Early Childhood Self-Care Checklist
Kindergarten Readiness Checklist
PK to Kindergarten Academic Skills (Assessment) (Tally Sheet)
Preschool Sequence Academic Checklist

Listening Comprehension and Oral Expression
Informal Progress Monitoring for Listening Comprehension and Oral Expression
Norms for Listening Comprehension and Oral Expression
Teacher Checklist for Listening Comprehension
Teacher Checklist for Oral Expression
Unpacked Standards – Listening, Viewing, and Speaking: K123456789101112

Math
Assessing Performance in Problem Solving (Checklist) (Frequency Chart)
Basic Math Test (K) (1) (2) (3) (4) (5) (6) (7) (8) (K – 6 Answer Key and Task Analysis)
Informal Math Probe (1) (2) (3) (4) (5) (6) and Answers (1) (2) (3) (4) (5) (6)
Skill-Based Math Checklist (K) (1) (2) (3) (4) (5)
West Virginia ABE Skills Checklist – Math

Occupational Therapy and Physical Therapy
Assessment of Functional Skills in the Educational Environment
Feeding Developmental Milestones
Fine Motor / Visual Motor Developmental Milestones
Functional Mobility / Self-Help Assessment
Gross Motor Developmental Milestones
Handwriting Assessment
Home Environment Information
Input Checklist for PT-OT
Personal Care Developmental Milestones
PT-OT Skill-Based Ideas
Release and Grasp Developmental Milestones
Transportation Assessment
Wheelchair Assessment

Reading
Fry Word Lists
Reading Comprehension Checklist
Reading Fluency Teacher Rating
Reading Fluency Verbage for Present Levels
West Virginia ABE Skills Checklist – Reading

Social Skills
Nonverbal Communication Milestones
Observation Profile for Social Skills
Social Communication Skills – the Pragmatics Checklist
Social/Emotional Assessment

Speech-Language Pathology
Functional Language Checklist
Nonacademic Adverse Effects of Speech Impairment
Nonverbal Skill-Based Assessment
Orion’s Pragmatic Language Skills Questionnaire
Pragmatics Checklist
Speech and Articulation Development Chart
Speech-Only Referral Form
Teacher Input – Articulation
Teacher’s Rating Scale – Pragmatic Language Evaluation
Voice Evaluation

Transition
Adolescent Autonomy Checklist
Assessment of Financial Skills and Abilities
Career Clusters Interest Survey
Consent to Invite Outside Agency
Independent Living Assessment
Life Skills Inventory
Quickbook of Transition Assessments
Self-Determination / Self-Advocacy Checklist
Self-Determinationf Self-Assessment
Social and Vocational Abilities Listing
Student Transition Interview Form
Vocational Behavior Evaluation

Written Expression
6 + 1 Writing Rubric (K-2) (3-12)
Skill-Based Writing Inventory (K-6) (7-12)
Qualitative Features of Writing Checklist
WE-CBM Error Tracking Checklist
West Virginia ABE Skills Checklist – Writing

Dominant Multiple Epiphyseal Dysplasia (Fairbank’s disease)

Diseases related to Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia

Fairbank’s disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective.
Signs and symptoms

Children with autosomal dominant MED experience joint pain and fatigue after exercising. Their x-rays show small and irregular ossifications centers, most apparent in the hips and knees. There are very small capital femoral epiphyses and hypoplastic, poorly formed acetabular roofs.[1] A waddling gaitmay develop. Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. Flat feet are very common.[2] The spine is normal but may have a few irregularities, such as scoliosis.

By adulthood, people with MED are of short stature or in the low range of normal and have short limbs relative to their trunks. Frequently, movement becomes limited at the major joints, especially at the elbows and hips. However, loose knee and finger joints can occur. Signs of osteoarthritis usually begin in early adulthood.[3]

Children with recessive MED experience joint pain, particularly of the hips and knees, and commonly have deformities of the hands, feet, knees, or vertebral column (like scoliosis). Approximately 50% of affected children have abnormal findings at birth (such as club foot or twisted metatarsals, cleft palate, inward curving fingers due to underdeveloped bones and brachydactyly, or ear swelling caused by injury during birth). Height is in the normal range before puberty. As adults, people with recessive MED are only slightly more diminished in stature, but within the normal range. Lateral knee radiography can show multi-layered patellae.[3]

Inheritance

Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is an autosomal recessive form.[4]

Cause

In the dominant form, mutations in five genes are causative: COMP (chromosome 19), COL9A1 (chromosome 6), COL9A2 (chromosome 1), COL9A3(chromosome 20), and MATN3 (chromosome 2). However, in approximately 10%-20% of samples analyzed, a mutation cannot be identified in any of the five genes above, suggesting that mutations in other as-yet unidentified genes are involved in the pathogenesis of dominant MED.[10]

The COMP gene is mutated in 70% of the molecularly confirmed MED patients. Mutations are in the exons encoding the type III repeats (exons 8-14) and C-terminal domain (exons 15-19).[11] The most common mutations in COL9A1 are in exons 8-10, in COL9A2 in exons 2-4, and in COL9A3 in exons 2-4. Altogether, those mutations cover 10% of the patients. The other 20% of affected people have mutations in MATN3 gene, all found within exon 2. The following testing regime has been recommended by the European Skeletal Dysplasia Network:

  • Level 1: COMP (exons 10-15) and MATN3 (exon 2)
  • Level 2: COMP (exons 8 & 9 and 16-19)
  • Level 3: COL9A1 (exon 8), COL9A2 and COL9A3 (exon 3)

All those genes are involved in the production of the extracellular matrix (ECM). The role of COMP gene remains unclear. It is a noncollagenous protein of the ECM.[12] Mutations in this gene can cause the pseudoachondroplasia (PSACH). It should play a role in the structural integrity of cartilage by its interaction with other extracellular matrix proteins and can be part of the interaction of the chondrocytes with the matrix. It is a potent suppressor of apoptosis in chondrocytes and can suppress apoptosis. Another one of it roles is maintaining a vascular smooth muscle cells contractile under physiological or pathological stimuli.[13]

Since 2003, the European Skeletal Dysplasia Network has used an online system to diagnose cases referred to the network before mutation analysis to study the mutations causing PSACH or MED.[14]

COL9A1COL9A2COL9A3 are genes coding for collagen type IX, that is a component of hyaline cartilage. MATN3 protein may play a role in the formation of the extracellular filamentous networks and in the development and homeostasis of cartilage and bone.[15]

In the recessive form, the DTDST gene, also known as SLC26A2, is mutated in almost 90% of the patients, causing diastrophic dysplasia. It is a sulfate transporter, transmembrane glycoprotein implicated in several chondrodysplasias. It is important for sulfation of proteoglycans and matrix organization.[16]

Diagnosis

Diagnosis should be based on the clinical and radiographic findings and a genetic analysis can be assessed.[17]

Treatment

Symptomatic individuals should be seen by an orthopedist to assess the possibility of treatment (physiotherapy for muscular strengthening, cautious use of analgesic medications such as nonsteroidal anti-inflammatory drugs). Although there is no cure, surgery is sometimes used to relieve symptoms.[18]Surgery may be necessary to treat misalignment of the hip (osteotomy of the pelvis or the collum femoris) and, in some cases, malformation (e.g., genu varum or genu valgum).[19] In some cases, total hip replacement may be necessary. However, surgery is not always necessary or appropriate.[20]

Sports involving joint overload are to be avoided, while swimming or cycling are strongly suggested.[21] Cycling has to be avoided in people having ligamentous laxity.

Weight control is suggested.[22]

The use of crutches, other deambulatory aids or wheelchair is useful to prevent hip pain.[23] Pain in the hand while writing can be avoided using a pen with wide grip.[24]

History

Multiple epiphyseal dysplasia was described separately by Seved Ribbing and Harold Arthur Thomas Fairbank in the 1930s.[3]

In 1994, Ralph Oehlmann’s group mapped MED to the peri-centromeric region of chromosome 19, using genetic linkage analysis.[25] Michael Briggs’ group mapped PSACH to the same area.[26] COMP gene was firstly linked to MED and PSACH in 1995.[27] In 1995, the group led by Knowlton did a “high-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.”[28]

Research on COMP led to mouse models of the pathology of MED. In 2002, Svensson’s group generated a COMP-null mouse to study the COMP protein in vivo. These mice showed no anatomical, histological, or even ultrastructural abnormalities and none of the clinical signs of PSACH or MED. Lack of COMP was not compensated for by any other protein in the thrombospondin family. This study confirmed that the disease is not caused by reduced expression of COMP.[29]

In 2007, Piròg-Garcia’s group generated another mouse model carrying a mutation previously found in a human patient. With this new model, they were able to demonstrate that reduced cell proliferation and increased apoptosis are significant pathological mechanisms involved in MED and PSACH.[30] In 2010, this mouse model allowed a new insight into myopathy and tendinopathy, which are often associated with PSACH and MED. These patients show increased skeletal muscle stress, as indicated by the increase in myofibers with central nuclei. Myopathy in the mutant mouse results from underlying tendinopathy, because the transmission of forces is altered from the normal state. There is a higher proportion of larger diameter fibrils of collagen, but the cross-sectional area of whole mutant tendons was also significantly less than that of the wild-type tendons causing joint laxity and stiffness, easy tiring and weakness. This study is important because those diseases are often mistaken for neurological problems, since the doctor can detect a muscle weakness. This includes many painful and useless clinical neurological examination before the correct diagnosis. In this work, the researchers suggest to the pediatric doctor to perform x-rays before starting the neurological assessment, to exclude the dysplasia.[31]

COL91A mutation was discovered in 2001.[32]

Prominent people with this condition

Source

Article

MULTIPLE EPIPHYSEAL DYSPLASIA NATURAL HISTORY

Educational Resources

Traumatic Brain Injury Resources from BrainSTARS

Recently we had a student who had a traumatic brain injury and we were looking for user-friendly strategies to use at school. Our speech and language pathologist suggested BrainSTARS. I hope you find it as useful as we have in supporting students with brain injuries.

Tools from the BrainSTARS manual:

The manual is available in English and Spanish. For more information or to order copies, call 1.800.624.6553, ext. 5470 or moores.christine@tchden.org.

Videos

Traumatic Brain Injury

A traumatic brain injury (TBI) is defined as a blow to the head or a penetrating head injury that disrupts the normal function of the brain. TBI can result when the head suddenly and violently hits an object or when an object pierces the skull and enters brain tissue. Symptoms of a TBI can be mild, moderate or severe, depending on the extent of damage to the brain. Mild cases may result in a brief change in mental state or consciousness, while severe cases may result in extended periods of unconsciousness, coma or even death.

About 1.7 million cases of TBI occur in the U.S. every year. Approximately 5.3 million people live with a disability caused by TBI in the U.S. alone.

  • Annual direct and indirect TBI costs are estimated at $48-56 billion.
  • There are about 235,000 hospitalizations for TBI every year, which is more than 20 times the number of hospitalizations for spinal cord injury.
  • Among children ages 14 and younger, TBI accounts for an estimated 2,685 deaths, 37,000 hospitalizations and 435,000 emergency room visits.
  • Every year, 80,000-90,000 people experience the onset of long-term or lifelong disabilities associated with TBI.
  • Males represent 78.8 percent of all reported TBI accidents and females represent 21.2 percent.
  • National statistics estimate between 50-70 percent of TBI accidents are the result of a motor vehicle crash.
  • Sports and recreational activities contribute to about 21 percent of all TBIs among American children and adolescents.
  • The mortality rate for TBI is 30 per 100,000, or an estimated 50,000 deaths in the U.S. annually. Of those who die, 50 percent do so within the first two hours of their injury.
  • Deaths from head injuries account for 34 percent of all traumatic deaths. Beginning at age 30, the mortality risk after head injury begins to increase. Persons age 60 and older have the highest death rate after TBI, primarily because of falls, which have a rising incidence in this age group.

Sources:

Centers for Disease Control and Prevention (CDC), Traumatic Brain Injury (TBI): Incidence and Distribution, 2004.

Traumatic Brain Injury Model System, University of Alabama at Birmingham, Introduction to Brain Injury – Facts and Stats, February, 2000

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DiGeorge Syndrome at School

DiGeorge Syndrome

What is 22q11.2 deletion syndrome in children?

22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder. In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. These problems may range from heart defects and developmental delays to seizures. The child may also have changes in how the eyes, nose, or ears look. Or the child may have an opening in the roof of the mouth (cleft palate). Most children with the syndrome only have some of the health problems. In general, any of the health problems can be treated, especially if they are found early.

The name of the syndrome refers to the missing piece of chromosome 22. It is located at a place on that chromosome called q11.2.

The symptoms of 22q11.2DS can vary greatly from one child to another. For that reason, several disorders caused by 22q11.2DS have had other names in the past. These names include:

  • DiGeorge syndrome
  • Velocardiofacial syndrome (VCFS)
  • Shprintzen syndrome
  • Conotruncal anomaly face syndrome (CTAF)
  • Sedlackova syndrome
  • CATCH 22 syndrome

Some children with the syndrome had been diagnosed with Opitz G/BBB syndrome or Cayler cardiofacial syndrome in the past. Healthcare providers now know that these disorders all share the same genetic cause as 22q11.2DS. 

About 1 in 4,000 people have 22q11.2DS. But some experts believe this number is higher. Some parents who have a child with this chromosome problem may not know it because the symptoms are less severe.

What causes 22q11.2DS in a child?

Most children with 22q11.2DS are missing about 50 genes. Researchers don’t yet know the exact function of many of these genes. But missing the gene TBX1 on chromosome 22 likely causes the syndrome’s most common physical symptoms. These include heart problems and cleft palate. The loss of another gene (called COMT) may also explain the higher risk for behavior problems and mental illness.

About 9 in 10 cases of 22q11.2DS happen by chance (randomly). They occur when the egg is fertilized. Or they occur early in a baby’s growth in the mother’s uterus. This means that most children with the disorder have no family history of it.

But a person with the condition can pass it on to his or her children. About 1 in 10 cases are inherited from the mother or the father. When the condition is inherited, other family members could also be affected. A person who has this chromosome deletion has a 1 in 2 chance of passing the problem to a child. So both parents can have their blood studied to look for the deletion.

Which children are at risk for 22q11.2DS?

A child is more at risk for this disorder if he or she has a parent with the condition or is carrying the faulty chromosome. But most cases occur randomly.

What are the symptoms of 22q11.2DS in a child?

Symptoms of 22q11.2DS may vary widely, even among family members. At least 30 symptoms have been seen with this disorder. Most children have only some of the symptoms.

The most common symptoms include:

  • Heart defects. These are usually present from birth (congenital).
  • Mouth problems. These include cleft palate and a palate that does not close fully (velopharyngeal insufficiency). These can cause speech problems.
  • Ear problems. This includes middle ear infections or hearing loss.
  • Low levels of calcium in the blood. This is caused by problems with the parathyroid glands and can trigger seizures.
  • Immune system problems. These can increase the risk for infections.
  • Spine problems. These include curvature of the spine (scoliosis) and problems with the bones of the neck or upper back.
  • Learning problems. These include delays in development and speech.
  • Communication and social problems. This includes autism.
  • Increased risk for mental illness. This includes anxiety, depression, or schizophrenia in adulthood.
  • Feeding difficulties. These may occur because of a cleft palate, gastroesophageal reflux, or other issues.
  • Kidney problems. These may include an abnormally shaped kidney or a missing kidney.

Facial features of children may include:

  • Small ears with squared upper ear
  • Hooded eyelids
  • Cleft lip, cleft palate, or both
  • Uneven (asymmetric) face when crying
  • Small mouth, chin, and side areas of the tip of the nose

The symptoms of 22q11.2DS can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

How is 22q11.2DS diagnosed in a child?

Your child’s healthcare provider will look at your child’s prenatal history and complete health and family history. He or she will do a physical exam. Your child may need certain tests. These may include:

  • Blood tests. These are to look for immune system problems.
  • X-ray. This test makes pictures of internal tissues, bones, and organs.
  • Echocardiography. This test looks at the structure of the heart and how well it is working.
  • Fluorescent in situ hybridization (FISH) studies. This blood test looks for certain genes that are deleted. If the FISH test doesn’t find any deletion in the 22q11.2 region of the chromosome, but your child has signs of the syndrome, he or she will usually need a full chromosome study. This will look for other chromosome problems.
  • Chromosomal microarray. This is similar to a FISH test. But it looks at many regions across all the chromosomes, including chromosome 22. This is to find a missing piece in the 22q11.2 location.

How is 22q11.2DS treated in a child?

There is no cure for 22q11.2DS. But many of its related health problems can be treated. You can help your child by seeking early care.

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.

Treatment may include working with specialists. This may include any of the below:

  • Cardiologist. He or she will look at any heart defects. The cardiologist may correct them with a procedure or surgery.
  • Plastic surgeon and speech pathologist. They will look at any cleft lip or cleft palate defects.
  • Speech and digestive specialists. They will look at any feeding problems. Some children with the syndrome have severe feeding problems. They need tube feedings in order to get enough nutrition.
  • Immune system specialist.  Your child should be checked by this type of specialist. If your child has a T cell problem, he or she is at risk for infections that keep coming back. Your child should not have any live viral vaccines. Your child should have any blood products for a transfusion irradiated. This is true unless your child’s immune system doctor says that is not needed.

Other common problems that may need treatment include:

  • Low calcium. This is common in children with the syndrome, especially right after birth. But it can also happen during times of stress, such as during puberty or after surgery. Your child may need to take calcium and vitamin D supplements. Your child may need to see an endocrinologist. This is a doctor who specializes in treating problems of the endocrine system.
  • Development problems. Young children with 22q11.2DS may be slow to meet developmental milestones. These include sitting, walking, and talking. The International 22q11.2 Deletion Syndrome Foundation recommends that parents consider physical therapy (PT), occupational therapy (OT), and speech therapy for their child. PT strengthens large muscles and helps children meet developmental milestones. OT focuses on small muscles used for tying shoes, buttoning clothes, and other tasks. It can also help with feeding problems. Speech therapy can help your child with language delays.

What are the possible complications of 22q11.2DS in a child?

A small number of children with severe heart defects and immune system problems caused by 22q11.2DS will not survive the first year of life. But most children with the syndrome who get treatment will survive and grow into adulthood. These children will likely need extra help throughout school. They may also need long-term care for their health needs.

Some children with the syndrome may have behavioral conditions. These include autism, attention deficit disorder, obsessive compulsive disorder, or anxiety.

How can I help prevent 22q11.2DS in my child?

Most cases of 22q11.2DS occur randomly. So the disease can’t always be prevented. In about 1 in 10 cases of the syndrome, the deletion is inherited from one of the parents. Think about having genetic testing and counseling to find out if this disorder is inherited. If you have the 22q11.2 deletion, you have a 1 in 2 chance of passing it on to a child. This is true for every pregnancy you have.

How can I help my child live with 22q11.2DS?

Most health problems caused by 22q11.2DS can be treated, especially if they are found early. You can help your child by:

  • Keeping all appointments with your child’s healthcare provider.
  • Calling the healthcare provider if you are concerned about your child’s symptoms.
  • Telling others of your child’s condition. Work with your child’s healthcare provider and school to come up with a treatment plan.
  • Thinking about getting genetic testing and counseling to understand whether 22q11.2DS is an inherited condition in your family.

When should I call my child’s healthcare provider?

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms

Key points about 22q11.2DS in children

  • 2 deletion syndrome (22q11.2DS) is a genetic disorder where a tiny piece of chromosome 22 is missing.
  • Most cases happen randomly as a baby grows in the mother’s uterus. It can also be inherited.
  • Symptoms vary widely and can range from heart defects and developmental delays to seizures. A child’s eyes, nose, or ears may look different. Or the child may have an opening in the roof of the mouth (cleft palate).
  • The syndrome has no cure. But many related health problems can be treated. You can help your child by seeking early care.
  • Most children who get treatment early will survive and grow into adulthood. They will likely need extra help throughout school. They may also need long-term care for their health needs.
  • A person with this condition has a 1 in 2 chance of passing the problem to a child. So genetic testing and counseling are important.

Source

Resources

Information for Educators and Members of School Resource Teams

22q Deletion Velocardiofacial At a Glance (Comprehensive overview)*

Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome COLIN REILLY and LINDSEY STEDMAN

Educational Issues for children with Chromosome 22q11.2 deletion (PowerPoint)

What is 22q11.2 Deletion Syndrome? (Super Duper Handout)

Math Instruction for Students with Chromosome 22q11.2 Deletion Cheryl Dultz

Videos from the 22q foundation

final-22q-infograph-pano

Books

Just Jen: Living With Invisible Differences

By R. S. Hibbard

In this funny, heartwarming celebration of kindness and inclusion, spunky grade school narrator Jenna, or Jen (as she prefers), shares all about living with invisible differences.

Parents

Helping your Anxious Child

A Step by Step Guide for Parents

by Ronald Rapee, PhD

This revised and expanded edition of the best-selling Helping Your Anxious Child offers parents the most up-to-date, proven-effective techniques for helping children overcome anxiety.


Overview of The Syndrome Missing Genetic Pieces

by Sherry Baker-Gomez

The author, Sherry Baker-Gomez, is the parent of a child with VCFS. Her son, now 25, was finally diagnosed with VCFS at 18 years of age after a long medical history and searching for answers. Sherry, herself, had been so desperate for answers after many years of struggling with her son’s undiagnosed disorder that she became a nurse in an effort to understand the symptoms she saw in him and what they meant. Then she realized that many other parents needed answers and needed to know where to turn, so she began writing.

Committed to VCFS education, Sherry started gathering information on resources and, stories that offered support. Working along with other parents and professionals, Sherry has organized this collection of information into a comprehensive handbook that brings information and resources to parents, professionals, and others under one cover.

Modified from http://www.amazon.com/Missing-Genetic-Pieces-Sherry-Baker-Gomez/dp/097453580X


Educating Children with Velo-cardio-facial Syndrome

by Donna Cutler-Landsman

This book effectively blends the thoughtful research that has transpired within the past 15 years with practical and current educational strategies to better meet the needs of children with VCFS and other developmental disabilities.

The first part of the book explains the syndrome and the implications of current research in the fields of brain abnormalities, language/learning profiles and psychiatric/behavioral difficulties. These chapters are written in a reader-friendly manner for parents, professionals, and teachers. The second part of the book is a practical guide to educating a child with VCFS from birth through adulthood. It includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, as well as behavioral problems in the school setting. The authors also present meaningful advice on issues such as friendships, private vs. public school placement, job training, and other pertinent decisions that affect the VCFS child’s everyday life.

Modified from http://www.amazon.com/Educating-Velo-Cardio-Facial-Syndromes-Communication-Disorders/dp/1597564923


Educating the Child with VCFS Also Known as 22q11.2 Deletion Syndrome and DiGeorge Syndrome. Second Edition

by Donna Cutler-Landsman

For the second edition, the author has added fresh and updated content. A partial list of new material includes:

  • The most recent research and studies to make the text as up-to-date as possible
  • Expanded and enhanced coverage of bullying and the social/emotional aspects of VCFS
  • More information on common core standards and standardized testing for children with disabilities
  • Homeschooling and other placement alternatives
  • Executive functioning deficits and their impact in the classroom
  • Dealing with problem behaviors
  • Issues related to anxiety and school success
  • Cognitive remediation and new treatment strategies
  • New math and reading remediation techniques
  • Expanded section on the very young child

With its expanded content, as well as contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio Facial Syndrome (also Known as 22q11.2 Deletion Syndrome and DiGeorge Syndrome), Second Edition is an essential resource for teachers, parents, physicians, and therapists of children with velo-cardio-facial-syndrome.

Modified from http://www.amazon.com


Footprints of Hope: VCFS (Velo-Cardio-Facial Syndrome)

by Raymond Tanner

54-year-old Raymond Tanner has always felt different. As a child, he looked unusual, had trouble speaking clearly and was a slow learner. Over the years, he’s had countless operations to improve his appearance. For Tanner, being diagnosed with VCSF (at the age of 43) helped him re-evaluate his life, but it also brought a burden of guilt – both his sons were born with the syndrome. His first son died of heart problems when he was nine days old. His other son, Andrew, has ongoing health issues. Tanner now hopes to help other families through giving them a better understanding of VCFS, and encouragement that support is available and there is hope for the future.

This book is a compilation of stories from families from Australia, France, Israel, New Zealand, South Africa, the UK and the USA; and other important information. It also tells about Raymond Tanner’s life story with VCFS in himself and his two sons.

Modified from http://www.amazon.com/Footprints-Hope-VCFS-Velo-Cardio-Facial-Syndrome/dp/0958117535


Adolescence and Young Adulthood Being Different: Growing up with impairments

by Daniella Krijger

Daniella is worried about the future of her son Tijn. He has been diagnosed with 22Q11deletion syndrome, and also has ADHD, autism spectrum disorder and Dyslexia. She wanted to know how people with a syndrome, disorder or impairment led their lives, what they had been through and whether they had been able to make their dreams come true despite these obstacles. How does it feel when others see you as being ‘different’ and treat you ‘differently’?

In this inspiring book, adolescents and adults with 22Q11 deletion syndrome, ADHD and ASD tell about their dreams and ambitions, friendships, love, education, work, drugs and depressions. Young people with a disability have to work harder at doing their best. They have the additional challenge of biases and incomprehension. Increasing awareness about 22Q11 deletion syndrome will hopefully contribute to more understanding and patience for these people who might seem different but who are as ordinary as anyone else.

Modified from http://www.amazon.com/Being-Different-Growing-impairments-ebook/dp/B008EVT0TE


A Different Life

by Quinn Bradlee

Ten percent of the population is affected by a learning disability, but few of us understand what being learning disabled (LD) is really like. When he was fourteen, Bradlee was diagnosed with Velo-Cardio-Facial-Syndrome (VCFS), a wide-spread, little-understood disorder that is expressed through a wide range of physical ailments and learning disabilities. In this funny, moving, and often irreverent book, Bradlee tells his own inspirational story of growing up as an LD kid—and of doing so as the child of larger-than-life, formidably accomplished parents: long-time Washington Post executive editor Ben Bradlee and bestselling author Sally Quinn. From his difficulties reading social cues, to his cringe-worthy loss of sexual innocence, Bradlee describes the challenges and joys of living “a different life” with disarming candor and humor. By the end of A Different Life he will have become, if not your best friend, one of your favorite people.

From http://www.amazon.com/Different-Life-Learning-Disabled-Adventures/dp/B004JU1U1U


Socially Curious and Curiously Social: A Social Thinking Guidebook for Bright Teens & Young Adults

by Michelle Garcia Winner and Pamela Crooke

This anime-illustrated guidebook is written for teens and young adults to learn how the social mind is expected to work in order to effectively relate to others at school, at work, in the community and even at home. The book is written in the language of teens about what really goes on inside the minds of people as we share space together.

From discussing the ins and outs of what it means to be a social thinker to figuring out texting, dating, the different levels of friendship and the many and varied emotions we experience as we relate to others, the authors describe the real world of being with other people. The authors are not trying to get every reader to find a group to hang out with; instead, they are providing information to help each person find his or her place and be appreciated by others at whatever level he or she feels comfortable with.

Modified from http://www.amazon.com/Socially-Curious-Curiously-Social-Guidebook/dp/0884272028


So, What’s the Difference? A self-help guide to helping children and young adults understand their learning differences

By Donna Cutler-Landsman

This self-help workbook is designed to assist students with disabilities in understanding causes of disabilities, recognizing individual strengths and weaknesses, soliciting help from others, understanding the role of special education, learning how to be successful at school, studying for tests more effectively, getting and staying organized, coping with teasing and bullying, making and keeping friends, coping with sadness and frustration, recognizing the struggles of others, mapping out and working towards future goals.

The workbooks are available in four themes: butterflies, coral reef, racecar and jungle.


Children with Cleft Lip and Palate

A Parents’ Guide to Early Speech- Language Development and Treatment 

by Mary A. Hardin-Jones, Ph.D., CCC-SLP, Kathy L. Chapman, Ph.D., CCC-SLP & Nancy J. Scherer, Ph.D., CCC-SLP

Family-friendly guidance and support for young children with clefts. Teams of SLPs explain clefts and offer strategies to improve speech and language in children up to age three.

Modified from http://woodbinehouse.com/book_reviews.asp?product_id=978-1-60613-210-4

Living With a Brother or Sister With Special Needs: A Book for Sibs

by Donald Meyer and Patricia Vadasy

Living with a Brother or Sister with Special Needs focuses on the intensity of emotions that brothers and sisters experience when they have a sibling with special needs, and the hard questions they ask: What caused my sibling’s disability? Could my own child have a disability as well? What will happen to my sibling if my parents die? Written for young readers, the book discusses specific disabilities in easy to understand terms. It talks about the good and not-so-good parts of having a sibling with special needs, and offers suggestions for how to make life easier for everyone in the family.

This revised and updated edition includes new sections on attention deficit hyperactivity disorder, fetal alcohol syndrome, fragile X syndrome, traumatic brain injuries, ultrasound, speech therapy, recent legislation on disabilities, and an extensive bibliography.

Modified from http://www.amazon.com/Living-Brother-Sister-Special-Needs/dp/0295975474


Views from Our Shoes: Growing Up with a Brother or Sister with Special Needs

by Donald Joseph Meyer

In Views From Our Shoes, 45 siblings share their experiences as the brother or sister of someone with a disability. The children whose essays are featured here range from four to eighteen and are the siblings of youngsters with a variety of special needs, including autism, cerebral palsy, developmental delays, ADD, hydrocephalus, visual and hearing impairments, Down and Tourette syndromes. Their personal tales introduce young siblings to others like them, perhaps for the first time, and allow them to compare experiences. A glossary of disabilities provides easy-to-understand definitions of many of the conditions mentioned.

From http://www.amazon.com/Views-Our-Shoes-Growing-Brother/dp/0933149980

Bedwetting in School-Aged Children

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Bedwetting is an issue that comes up in elementary school from time to time. Here are some resources to help support this situation for your students. The good news is that for many children the problem will resolve itself over time, or can be fixed through fairly simple treatment.

Bedwetting (also called nocturnal enuresis) is very common. As the following graph shows, almost a third of four-year-olds wet the bed. By the time they are 6, only one in 10 children wet the bed, and one in 20 by age 10. Bedwetting can sometimes continue into adolescence.

Percentage of children who wet the bed at different ages

bed wetting graph

Source

Nighttime bedwetting. This type of bedwetting is a common sleep
a problem in children ages 6–12, occurring only during NREM sleep.
Primary enuresis (the child has never been persistently dry at night)
is associated with a family history of the problem, developmental lag,
or lower bladder capacity, and is unlikely to signal a serious
problem. Secondary enuresis (a recurrence of bedwetting after a year
or more of bladder control) is more likely to be associated with
emotional distress. Interventions include the use of reinforcement and
responsibility training (such as keeping a dry night chart), bladder
control training, conditioning (e.g., bedwetting alarms), and
sometimes medication. In the case of secondary enuresis, it might be
most helpful to determine any source of emotional stress and address
it directly. (For example, if a child starts wetting the bed at night
following parents’ separation or divorce, providing counseling to
address loss issues might help alleviate bedwetting.)

Source

When to see a doctor

You may wish to see a doctor about your child’s bedwetting if:

  • your child is at least six years old (treatment for bedwetting is not recommended before this age as treatment is less effective and many children get better on their own)
  • you or your child are troubled or frustrated by the bedwetting
  • you punish, or are concerned that you might punish, your child for wetting the bed
  • your child wets or has bowel movements in their pants during the daytime.

If your child has been dry at night for six months then begins to wet their bed again, it is important to see a doctor for evaluation.

The doctor will consider your child’s details and determine if there is a physical problem that needs to be addressed.

Source
BEDWETTING

Nocturnal enuresis is the medical term for bedwetting. Most children
wet the bed occasionally or even nightly during the potty-training
years. In fact, it is estimated that seven million children in the
United States wet their beds on a regular basis. Controlling bladder
function during sleep is usually the last stage of potty-training. In
others words, it is normal for children to wet the bed while sleeping
during that learning process. Bedwetting is typically not even
considered to be a problem until after age 7.

Bedwetting in children is often simply a result of immaturity. The age
at which children become able to control their bladders during sleep
is variable. Bladder control is a complex process that involves
coordinated action of the muscles, nerves, spinal cord and brain. In
this case, the problem will resolve in time. On the other hand, it may
be an indication of an underlying medical condition, such as
obstruction of the urinary tract. If bedwetting persists beyond the
age of 6 or 7, you should consult your pediatrician.

There are both primary and secondary forms of bedwetting. With primary
bedwetting, the child has never had nighttime control over urination.
The secondary form is less common and refers to bedwetting that occurs
after the child has been dry during sleep for 6 or more months.
Secondary bedwetting may be caused by psychological stress but may be
the result of an underlying medical condition such as constipation or
urinary tract obstruction. With secondary bedwetting, contact your
doctor for an evaluation.

Commonly prescribed behavioral methods for treating the problem include:

Establishing a regular bedtime routine that includes going to the bathroom
Waking your child during the night before he/she typically wets the
bed and taking him/her to the bathroom
Developing a reward system to encourage your child, such as stickers
for dry nights
Talking to your child about the advantages of potty-training, such as
not having to wear diapers and becoming a “big kid”
Limiting beverages in the evening – even those last minute water requests
Using a “bell-and-pad” which incorporates an alarm that goes off
whenever your child’s pajamas or bed become wet during an accident.
These systems teach your child to eventually wake up before the
bedwetting occurs

As a last resort, a doctor may prescribe medication for bedwetting,
either for short or long-term use. Some examples are imipramine (an
antidepressant), which relaxes the bladder, and desmopressin, a
man-made copy of a normal body chemical that controls urine production
at night. Although medication usually helps, bedwetting typically
resumes once the child stops taking the medicine. As with any drug, it
is important to monitor your child’s response to the medication.

Coping with Bedwetting:

There are products that parents can buy for school-aged children with enuresis:

Disposable absorbent underpants
Reusable absorbent underpants
Sleeping bag liners
Moisture alarms that go off when the child begins to wet the bed

There is no reason for punishment if your child wets the bed. Your
child cannot help it. Talk to your doctor about treatment options and
following these coping tips may help:

Be patient, understanding and attentive
Do not talk about the bedwetting in front of others
Talk to your child about how the bladder works
Avoid fluids in the hours before bed

Source

Links

Bed-wetting: Tips to Help Your Child