These conditions can lead to language-based disabilities, motor planning deficits, reading dysfunction, and attention and behavioral disorders.
The Focus Foundation believes that, through increased awareness, early identification, and specific and targeted treatment, children with these conditions can reach their full potential.
Dr. Samango-Sprouse is also the director of the Neurodevelopmental Diagnostic Center for Young Children, located near Annapolis, Maryland, and an associate clinical professor of pediatrics at The George Washington University in Washington, D.C., and an adjunct associate professor in the Department of Human and Molecular Genetics at Florida International University.
The Focus Foundation attempts to increase awareness an X and Y chromosomal variations in order to help children with these disorders.
By promoting awareness of these disorders and associated symptoms, The Focus Foundation hopes to increase early identification, implement interventions, and help families pursue optimal outcomes for their children.
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.
Errors in recombination during meiosis produce additional X or Y chromosomes when compared to the typical complement of 46,XX or 46,XY.
The Focus Foundation works with healthcare providers, specialists, and parents to properly diagnosis, research, and organize a specific and targeted treatment for children with X & Y chromosomal variations.
With the proper diagnosis and intervention, children who have these neurogenetic disorders are transformed from vulnerable to powerful and become more confident, able, and successful than they have ever been.
These conferences invite families and physicians for consultations and speeches from a multi-disciplinary team of experts specializing in these disorders.
By promoting the spread of accurate and novel information about the incidence, diagnosis, symptoms, and management of these disorders, The Focus Foundation aims to encourage recovery worldwide.
The Focus Foundation consists of scientists, scholars, educators, health care providers, fundraising and marketing experts, and volunteers that work together on these issues and help change these children's lives.
The Focus Foundation helps families identify and understand specific reasons for their child's difficulties in school, behavioral problems, or developmental delays.
In addition, through their research, the team identifies the treatment and management strategies that effectively allow children with X & Y chromosome variations and other rare disorders to reach their optimal outcome.
These personalized recommendations are based one years of expertise and impact on health and well being as well as home, school and community life.
The Focus Foundation works to inform practitioners of common signs that might indicate that a child has a chromosome variation, as well as provide resources and partnerships with which to offer genetic testing for these disorders.
The Focus Foundation informs these professionals on how to work with and optimize the outcome in spite of developmental concerns or special needs: from providing teachers with resources and strategies to determining what kinds of outside services each child may need.
First held in 2011, The Atypical Learner Conference is designed for parents and caregivers of bright children who might be struggling to succeed in school.
This conference focuses on understanding common causes, explanations, and treatments for dyslexia, ADHD, speech delay, school failure, and behavioral difficulties.
Now in its sixteenth year, this is the largest gathering of this rare disorder in the world, with attendees traveling from across the United States and the globe.
The Maryland conference features patient evaluations by a multidisciplinary team of physicians who specialize in rare chromosomal variations and have established themselves as experts in their fields.
These and other experts present pertinent and educational information about 49,XXXXY to parents in order to better equip families to pursue optimal outcomes for their child.
The Focus Foundation engages in research of the general biological causes and potential treatments of aspects of the phenotype of X and Y Chromosomal Variations.
Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy (EHT).
Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).
Investigating the impact of early diagnosis and non-invasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs).
Doi:10.2147/TACG.S189450 incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.
179(3):423-428. https://doi.org/10.1002/ajmg.a.61038 Investigation of Neurocognitive and Behavioral Phenotype in 47,XXY (Klinefelter syndrome): Predicting Individual Differences.
Expanding the Phenotypic Profile of Kleefstra Syndrome: A Female with low-average Intelligence and Childhood Apraxia of Speech.
Positive Effects of Short Course Androgen Therapy on the Neurodevelopmental Outcome In Boys with 47,XXY Syndrome at 36 and 72 Months of Age.