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May is National X & Y Chromosome Awareness Month!

Tommy is an 18-month-old toddler with mild truncal hypotonia (low body tone) who is large for his age at the 95th percentile for all anthropomorphic measurements head circumference (HC), height (Ht), and weight (Wt).

He has a slow-to-warm temperament with atypical social interactions. There is expressive language delay but he seems to understand everything. He is an attractive little boy who seems bright to his primary care physician. His mother brings him to her physician and wonders if he is normal because he struggles and attains skills later than normal. The primary care physician (PCP) refers him to the infants and toddlers community program for speech and language evaluation. He qualifies for speech services. The speech and language pathologist (SLP) refers him to occupational therapy (OT) because he is clumsy and has sensory dysfunction. The OT recognizes developmental dyspraxia, balance issues and graphomotor dysfunction and treats him accordingly. She wonders about the etiology of all these subtle but important differences as well.

At five years of age, he is struggling in kindergarten and his mother returns to the PCP. The PCP considers a psychological evaluation but decides to give the youngster another year since “he is a boy”. Tommy struggles in first grade but by the second grade, he seems to have settled down. However, by the end of third grade, he has behavioral problems, is failing in school, and is acting out at home. Tommy is sent to a pediatric neurologist to determine if medication should be considered for his attention problems.

What does he have?

Did you know more than 500,000 people in the United States are believed to have a Sex Chromosome Anomaly? Research reveals that every day 20 children will be born with XXY, XXX or XYY chromosomal disorders and only 5 of those 20 will be diagnosed in their lifetime and receive appropriate treatment. Ten to twenty percent of these disorders are identified from amniocentesis completed because of advanced maternal age. Although these disorders are associated with language-based learning disabilities, children remain largely undiagnosed because their neurodevelopmental problems are often perceived as “just a speech or motor delay” or, as children become older, “merely a learning disability.” Goal is to…

  • Identify children with neurodevelopmental disorders as early as possible.
  • Prevent language-based learning disorders
  • Provide children with appropriate, targeted treatment and intervention
  • Promote recovery and normalization as well as address the neurodevelopmental issues involved through syndrome-specific goals.

As a neurogenetic disorder, X & Y Variations are known by many names, among them: Sex Chromosome Disorders, X & Y Chromosomal Variations, Sex Chromosome Anomaly and Sex Chromosome Aneuploidy Variations.

Within the disorder are many sub-categories, which are identified by names including Klinefelter’s Syndrome, 49 XXXXY, Tetrasomy X,49 XXXXXX, Pentasomy X, 48 XXY and 47 XXY.

X & Y Variations are common but frequently undiagnosed genetic conditions that differ from the normal sex chromosome pairings of XX for females and XY for males. Due to a chromosomal mistake that produces additional X or Y chromosome to the normal complement of 46, the resulting total of 47 chromosomes (or more) may impact a child’s developing central nervous system and his or her body condition.

  • XXY occurs in 1 out of 650 live births
  • XXX occurs in 1 out of 900 live births
  • XYY occurs in 1 out of 1,000 live births

Information on these disorders is often outdated and incorrect. New research has been done on populations with these disorders and there is now more information than ever. Widespread misinformation about these conditions cause unnecessary distress to families dealing with such a diagnosis:

  • Contrary to common belief, people with X & Y Variations are often bright and exceptionally talented in perceptual tasks (such as design and computers).
  • They can play a variety of sports.
  • They typically do not have Autistic Spectrum Disorder.
  • They generally are not hermaphrodites, asexual or sexually confused, and they do not have an increased incidence of homosexual or transgender behavior based on current published scientific literature.
  • They are not always infertile (although they can have low fertility).
  • They are not characteristically prone to violence or criminal activity.
  • And they do not have an increased incidence of mental retardation, provided that their chromosomal variant is identified early and they are given appropriate targeted treatment and syndrome specific goals.

Unfortunately, because most ‘ practitioners often receive insufficient information about sex chromosome disorders, they don’t even consider testing for X & Y Variations when caring for a child who presents with developmental concerns.

I want health care providers, educators and parents to know:

  • 1 in 500 children have X & Y Variations that cause complex learning disabilities.
  • 20 babies born each day have an X & Y Chromosomal Variation, and only 5 will be diagnosed in their lifetime.
  • Developmental Dyspraxia is often mistaken as being “only a minor speech delay” when, in fact, multiple developmental domains are affected and require targeted treatment.
  • Symptoms of Dyslexia often present in preschool years and early identification and treatment is highly effective.
  • 10 percent of children with X & Y Variations are identified prior to birth and they usually develop Dyspraxia and Dyslexia. The knowledge gained from caring for these infants and toddlers benefits all children who have reading, speech and motor planning dysfunction.
  • With the proper diagnosis and intervention, children who have these neurogenetic disorders can be transformed from vulnerable to powerful, from school failure to academic success, from disabled to able!

If you have a child who has recently been diagnosed with an X and Y Chromosomal Variation and you need more information contact The Focus Foundation.

 

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