The Focus Foundation has published an article in Genetics and Medicine which shows early hormonal treatment (EHT) can improve receptive and expressive language capabilities in boys with 47,XXY!
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The Focus Foundation Promise
To increase awareness, increase early detection, and to discover innovative treatments for recovery.
Latest News and Updates
Check out our latest blog posts on fun & interesting happenings
Spring is here! This April for World Autism Awareness Month, learn some great facts about an amazing athlete, some fun activities you can try, and more!
Autism Awareness Day is April 2nd. Dr. Samango-Sprouse reported on a new screening method to detect infants at risk for Autism Spectrum Disorder (ASD).
X & Y Chromosomal Variation Disorders
The Focus Foundation is the first and only research-based agency exclusively dedicated to identifying and assisting families and children who have X & Y Chromosomal Variations (Sex Chromosome Disorders), Dyslexia and Developmental Dyspraxia.
Within the X & Y Variations disorders, there are three common variations which are 47,XXY, 47, XYY and 47, XXX. These disorders may be called other names including Klinefelter syndrome (47, XXY), Triple X (47, XXX) and Jacob’s syndrome (47, XYY).
There are also children with rare variant disorders of X and Y variations including 48,XXXY and 49,XXXXY, Tetrasomy X (48,XXXX), Pentasomy X( 49, XXXXX).
Physicians and ancillary health care providers such as physical therapists (PT) occupational therapists (OT), speech and language pathologists (SLP) and psychologists learn that neurogenetic abnormalities typically impact a child’s development in a variety of ways. During their professional training, they often receive inaccurate or out of date information. The most current information is necessary for all of children and their genetic disorders so they can receive optimal care.
Any child with neurodevelopmental differences should be screened for X & Y Variations including ADHD, anxiety, learning disabilities, dyslexia, developmental delay or behavioral problems.
The Focus Foundation’s research and awareness campaign wants all practitioners to think of X and Y Chromosomal Disorders whenever children are struggling in any domain of development.
Symptoms of X & Y Disorders
Research & Publications
The Focus Foundation fosters innovative, fast-paced, safe and creative research.
This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression.
It’s believed that 40 percent of all children with neurodevelopmental delays could have an undiagnosed genetic disorder. Parents with a child who has developmental delays or developmental dysfunction should consider completing our X and Y questionnaire. If there are three or more “Yes” then print the questionnaire and discuss the findings with your primary care provider. Three or more questions answered “Yes” suggest that your child may be at risk for X and Y chromosomal disorders.
Your child’s primary care provider may want to consider a chromosomal analysis or provide a referral to a clinical geneticist for an evaluation. Such an evaluation and lab testing should:
– Determine if the child has the appropriate number of chromosomes (46)
– Rule out deletions (missing pieces of chromosomal material) or additions (excess chromosomal material). These findings are important for diagnosing genetic syndromes, identifying related medical issues and developing appropriate, targeted treatment plans. Help is available. Click below to take the child questionnaire.
Is Your Child an “Atypical” Learner at Risk for X and Y Chromosomal Variations?
Children who exhibit the following symptoms are considered atypical learners and could have an X & Y Variation:
Late crawling or Walking
Quiet Baby who has delayed speech development
Walked after 15 months
Had trouble latching to the breast
Difficulty interacting with peers
Very shy and quiet especially around new people
Short attention span
Trouble with reading, writing and/or math
Seems to be “just a step behind” his or her peers
Prenatal Diagnosis: The Next Step
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