Helping with Homework

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While recent research has pointed to the lack of evidence to support that homework has a positive influence on learning, many of us parents are still working to support homework time for our students. Here are some resources to support the process.

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Resources

Homework: A Concern for the Whole Family  Check out the handy checklist on page 24.

Homework: A Guide for Parents- NASP

Parent Tip Sheet -Elementary

Homework Tips for Parents (ADHD)

Top Ten Homework Tips for Parents of Children with Learning Disabilities  Super Duper

Parent and Student Tip Sheets and Homework Charts

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Mandated Reporting (California)

 

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I just took my mandated reporter training. In an effort to keep kids safe I am posting these links to promote child safety.

Links

The CA Child Abuse and Neglect Reporting Law: Issues and Answers for Mandatory Reporters

California Department of Social Services (CDSS)

Department of Justice Form SS 8572 –This is the link to the reporting form.

Child Abuse and Neglect Reporting Act (CANRA)

California Education Code 44807, 49000 and 49001

Mandated Reporter Course Sources PDF

Recognizing Child Abuse: What Parents Should Know– Good resource for parents.

RISK FACTORS

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STATISTICS

  • 4.1 million child maltreatment referral reports received.1
  • Child abuse reports involved 7.5 million children.1
  • 3.2 million children received prevention & post-response services.1
  • 142,301 children received foster care services.1
  • 74.9% of victims are neglected.
  • 18.3% of victims are physically abused.1
  • 8.6% of victims are sexually abused.1
  • 7.1% of victims are psychologically maltreated.1
  • Highest rate of child abuse in children under age one (25.3% per 1,000).1
  • Annual estimate: 1,720 children died from abuse and neglect in 2017.1,
  • Almost five children die every day from child abuse.1,2
  • Seventy-two (71.8%) percent of all child fatalities were younger than 3 years old.1
  • 80.1% of child fatalities involve at least one parent.1
  • Of the children who died, 75.4% suffered neglect.1
  • Of the children who died, 41.6% suffered physical abuseeither exclusively or in combination with another maltreatment type.
  • 49.6% of children who die from child abuse are under one year.1
  • Boys had a higher child fatality rate than girls (2.68 boys & 2.02 girls per 100,000)1
  • Almost 65,000 children are sexually abused.1
  • More than 90% of juvenile sexual abuse victims know their perpetrator.6
  • Estimated that between 50-60% of maltreatment fatalities are not recorded on death certificates.5
  • Child abuse crosses all socioeconomic and educational levels, religions, ethnic and cultural groups.1

Who abused and neglected children? 

  • 83.4% (More than four-fifths) of perpetrators were between the ages of 18 and 44 years.1
  • 54.1% (More than one-half) of perpetrators were women45.0 % of perpetrators were men, and .09 % were of unknown sex.1

CONSEQUENCES & RISK FACTORS

  • Abused children are 25% more likely to experience teen pregnancy.6
  • Abused teens are more likely to engage in sexual risk taking behaviors, putting them at greater risk for STDs.6
  • About 30% of abused and neglected children will later abuse their own children, continuing the horrible cycle of abuse.7
  • In at least one study, about 80% of 21 year olds that were abused as children met criteria for at least one psychological disorder.13
  • The financial cost of child abuse and neglect in the United States is estimated at $585 billion.8
  • Adverse Childhood Experiences 

References

  1. Child Maltreatment 2017. Published: January 2019. An office of the Administration for Children & Families, a division of U.S. Department of Health & Human Services. This report presents national data about child abuse and neglect known to child protective services agencies in the United States during federal fiscal year 2016. Retrieved from: https://www.acf.hhs.gov/sites/default/files/cb/cm2017.pdf
  2. U.S. Department of Health and Human Services, Administration for Children and Families, Administration on Children, Youth and Families, Children’s Bureau. (2013). Child Maltreatment 2012. Available from: http://www.acf.hhs.gov/programs/cb/research-data-technology/statistics-research/child-maltreatment
  3. United States Government Accountability Office, 2011. Child maltreatment: strengthening national data on child fatalities could aid in prevention (GAO-11-599). Retrieved from: http://www.gao.gov/new.items/d11599.pdf
  4. U.S. Department of Health and Human Services Administration for Children and Families Administration on Children, Youth and Families Children’s Bureau. Child Abuse and Neglect Fatalities 2011: Statistics and Interventions. Retrieved from: http://www.childwelfare.gov/pubs/factsheets/fatality.pdf
  5. Snyder, Howard, N. (2000, July). Sexual assault of young children as reported to law enforcement: victim, incident, and offender characteristics. Retrieved from:  https://www.bjs.gov/content/pub/pdf/saycrle.pdf
  6. Long – Term Consequences of Child Abuse and Neglect. Child Welfare Information Gateway. Washington, D.C.: U.S. Department of Health and Human Services, 2013. Retrieved from: http://www.childwelfare.gov/pubs/factsheets/long_term_consequences.cfm
  7. Fang, X., et al. The economic burden of child maltreatment in the United States and implications for prevention. Child Abuse & Neglect (2012), doi:10.1016/j.chiabu.2011.10.006 Retrieved from: http://www.sciencedirect.com/science/article/pii/S0145213411003140
  8. Harlow, C. U.S. Department of Justice, Office of Justice Programs. (1999).Prior abuse reported by inmates and probationers (NCJ 172879) Retrieved from: http://bjs.ojp.usdoj.gov/content/pub/pdf/parip.pdf
  9. Swan, N. (1998). Exploring the role of child abuse on later drug abuse: Researchers face broad gaps in information. NIDA Notes, 13(2). Retrieved from the National Institute on Drug Abuse website: www.nida.nih.gov/NIDA_Notes/NNVol13N2/exploring.html
  10. Every Child Matters Education Fund. (2012). We can do better: Child abuse deaths in America (3rd ed.). Retrieved fromhttp://www.everychildmatters.org/storage/documents/pdf/reports/can_report_august2012_final.pdf
  11. Office on Child Abuse and Neglect, Children’s Bureau. Goldman, J., Salus, M. K., Wolcott, D., Kennedy, K. Y. (2003) A Coordinated Response to Child Abuse and Neglect: The Foundation for Practice, Chapter 5, Retrieved fromhttps://www.childwelfare.gov/pubs/usermanuals/foundation/
  12. Wilson, E., Dolan, M., Smith, K., Casanueva, C., & Ringeisen, H. (2012). NSCAW Child Well-Being Spotlight: Adolescents with a History of Maltreatment Have Unique Service Needs That May Affect Their Transition to Adulthood. OPRE Report #2012-49, Washington, DC: Office of Planning, Research and Evaluation, Administration for Children and Families, U.S. Department of Health and Human Services. Retrieved fromhttp://www.acf.hhs.gov/sites/default/files/opre/youth_spotlight_v7.pdf
  13. Amy B. Silverman, Helen Z. Reinherz, Rose M. Giaconia, The long-term sequelae of child and adolescent abuse: A longitudinal community study, Child Abuse & Neglect, Volume 20, Issue 8, August 1996, Pages 709-723. Retrieved fromhttp://www.sciencedirect.com/science/article/pii/0145213496000592
  14. U.S. National Library of Medicine. National Institutes of Health, Behavioral Consequences of Child Abuse. Retrieved from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743691/

SOURCE

Taking Time for Curiosity At School.

“The important thing is not to stop questioning. Curiosity has its own reason for existing.” — Albert Einstein

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I was thinking the other day, “What makes schooling more personalized for a student?” and I thought about my time with students and it was definitely the hook of curiosity. The world is a fascinating place and learning can become really exciting with the priming students wonder of a topic.

General

Introduction: How to Cultivate the Curiosity Classroom -ASCD Article

Why is inquiry important for student learning? Curiosity Cultivator

5 Learning Strategies That Make Students Curious

10 Strategies To Promote Curiosity In Learning

Curiosity: It Helps Us Learn, But Why?

 

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Quotes

THE MIND THAT OPENS TO A NEW IDEA NEVER RETURNS TO ITS ORIGINAL SIZE.

Albert Einstein

RESEARCH IS FORMALIZED CURIOSITY. IT IS POKING AND PRYING WITH A PURPOSE.

Zora Neale Hurston

ALL KNOWLEDGE IS CONNECTED TO ALL OTHER KNOWLEDGE. THE FUN IS IN MAKING THE CONNECTIONS.

Arthur Aufderheide

THE POWER TO QUESTION IS THE BASIS OF ALL HUMAN PROGRESS.

Indira Gandhi

PROGRESS IS BORN OF DOUBT AND INQUIRY.

Robert G. Ingersoll

NEVER BE LIMITED BY OTHER PEOPLE’S LIMITED IMAGINATIONS.

Mae Jemison

SKEPTICISM IS THE FIRST STEP TOWARDS TRUTH.

Denis Diderot

MAKE THE MOST OF YOURSELF BY FANNING THE TINY, INNER SPARKS OF POSSIBILITY INTO FLAMES OF ACHIEVEMENT.

Golda Meir

WE MUST DARE TO THINK ABOUT ‘UNTHINKABLE THINGS’ BECAUSE WHEN THINGS BECOME ‘UNTHINKABLE’, THINKING STOPS AND ACTION BECOMES MINDLESS.

J. William Fulbright

IT IS A NARROW MIND WHICH CANNOT LOOK AT A SUBJECT FROM VARIOUS POINTS OF VIEW.

George Eliot

IT WOULD BE BETTER FOR US TO HAVE SOME DOUBTS IN AN HONEST PURSUIT OF TRUTH, THAN IT WOULD BE FOR US TO BE CERTAIN ABOUT SOMETHING THAT WAS NOT TRUE.

Daniel Wallace

A MAP DOES NOT JUST CHART, IT UNLOCKS AND FORMULATES MEANING; IT FORMS BRIDGES BETWEEN HERE AND THERE, BETWEEN DISPARATE IDEAS THAT WE DID NOT KNOW WERE PREVIOUSLY CONNECTED.

Reif Larsen

FROM THE SMALLEST NECESSITY TO THE HIGHEST RELIGIOUS ABSTRACTION, FROM THE WHEEL TO THE SKYSCRAPER, EVERYTHING WE ARE AND EVERYTHING WE HAVE COMES FROM ONE ATTRIBUTE OF MAN – THE FUNCTION OF HIS REASONING MIND.

Ayn Rand

MILLIONS SAW THE APPLE FALL, BUT NEWTON ASKED WHY.

Bernard Baruch

CURIOSITY IS A WILLING, A PROUD, AND EAGER CONFESSION OF IGNORANCE.

S.Leonard Rubinstein

JUDGE A MAN BY HIS QUESTIONS RATHER THAN BY HIS ANSWERS.

Voltaire

THE FOCUS IS WHAT IS RIGHT BEFORE YOU–TO GIVE IT YOUR BEST. IT SOWS THE SEEDS OF TOMORROW.

Kiran Bedi

CURIOSITY IS THE WICK IN THE CANDLE OF LEARNING.

William Arthur Ward

SCIENCE IS FUN. SCIENCE IS CURIOSITY. WE ALL HAVE NATURAL CURIOSITY. SCIENCE IS A PROCESS OF INVESTIGATING. IT’S POSING QUESTIONS AND COMING UP WITH A METHOD. IT’S DELVING IN.

Sally Ride

DON’T LOOK AT YOUR FEET TO SEE IF YOU ARE DOING IT RIGHT. JUST DANCE.

Anne Lamott

CURIOSITY WILL CONQUER FEAR EVEN MORE THAN BRAVERY WILL.

James Stephens

THERE ARE NO FOOLISH QUESTIONS, AND NO MAN BECOMES A FOOL UNTIL HE HAS STOPPED ASKING QUESTIONS.

Charles Proteus Steinmetz

I THINK, AT A CHILD’S BIRTH, IF A MOTHER COULD ASK A FAIRY GODMOTHER TO ENDOW IT WITH THE MOST USEFUL GIFT, THAT GIFT WOULD BE CURIOSITY.

Eleanor Roosevelt

BEWARE OF MONOTONY; IT’S THE MOTHER OF ALL THE DEADLY SINS.

Edith Wharton

KNOWING THE ANSWERS WILL HELP YOU IN SCHOOL. KNOWING HOW TO QUESTION WILL HELP YOU IN LIFE.

Warren Berger

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

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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)

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)

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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

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