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Neurocognitive Study of Boys with 47XXY, or Klinefelter Syndrome, recently published by Journal of Developmental & Behavioral Pediatrics!
The Focus Foundation thanks our wonderful parent Amy M. for sharing their parent success story of Early Hormonal Treatment (EHT) with Testosterone “T-shots”.
The Focus Foundation’s article on early detection of Autism Spectrum Disorder (ASD) has hit 500 reads! We are ecstatic to watch our goals of increasing awareness become a reality.
The Focus Foundation’s 2019 49, XXXXY Family Conference
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 During their professional training, they often receive inaccurate or out of date information.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.
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.
Children who exhibit the following symptoms are considered atypical learners and could have an X & Y Variation:
