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Thursday, February 22, 2018

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The Focus Foundation, located in Davidsonville, Maryland, is a research agency that identifies and helps children who have X & Y Variations (also called X & Y chromosomal variations), dyslexia and/or developmental coordination disorder, conditions that 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 syndrome-specific treatment, children with these conditions can reach their full potential.

The Focus Foundation was established in 2005 by Carole Samango-Sprouse. 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. She serves as the Executive Director and Chief Science Officer of The Focus Foundation and has experience with the three disorders that are the Foundation's focus: X & Y chromosomal variations, developmental coordination disorder and dyslexia. NFC gfcvbhf The Foundation attempts to increase awareness about sex chromosome disorders in order to help children with these disorders. Although all physicians, ancillary health care providers and special educators are taught that genetic abnormalities can impact a child's development, practitioners often receive insufficient information about sex chromosome disorders, and don't often test for X & Y Variations when caring for a child who presents with developmental concerns. Early identification and syndrome-specific treatment can help these children to reach their full potential.


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Diagnosis of X & Y Variations

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. Twenty babies born each day have an X & Y Chromosomal Variation, and only five will be diagnosed in their lifetime. Twenty percent of children in school have some type of learning dysfunction, many believed to be undiagnosed children with X & Y Chromosomal Variations, and more than 500,000 people in the United States are believed to have a Sex Chromosome Anomaly. Only 5% of children with dyslexia are ever identified in their lifetime although they have symptoms presenting by 6 years of age, while most children with developmental coordination disorder are misdiagnosed with other disorders such as just speech delay, behavior problems or ADHD.

The Focus Foundation works with healthcare providers and parents to properly diagnosis and find a special targeted treatment plan for the child. With the right intervention these children can perform better in school and become more confident, able and successful then they have ever been. The Focus Foundation educates and trains professionals and families throughout the country (and, sometimes abroad) so that the lives of millions of children and their families can be greatly improved. With help, all of these children can reach their full potential.

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. Research is conducted and partnerships are made with pharmaceutical and other corporate sponsors to fund research, educate and train medical and health professionals and the community about developmental disturbances, brain-based intervention and syndrome-specific treatment.


Maps The Focus Foundation



Assistance provided

The Focus Foundation works with families, healthcare providers and educators.

Families

The Focus Foundation helps pinpoint specific reasons for why children might be falling behind in school, causing behavioral problems or showing developmental delays. They also work to create one-on-one plans that help children with X & Y chromosome variations and other rare disorders grow and learn in the way that works best for them. They cover everything from changing the way things are done in the home to school plans and outside services.

Health care practitioners

Most health care practitioners are not well versed in chromosome variations and therefore they don't even consider testing for X & Y chromosome variations when caring for a child that is presented with developmental concerns. The Focus Foundation works to inform practitioners of common signs that might mean a child has a chromosome variation. X & Y chromosome variations are beginning to be more widely known and tested for nationwide.

Educators

The Focus Foundation informs educators on how to work with and cater to children with developmental concerns or special needs: from crafting an IEP to determining what kinds of outside services each child may need. Every child will learn if therapeutic intervention is developed appropriately.


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Conferences

The Focus Foundation hosts several conferences annually for different groups; these conferences include expert speakers that specialize in Neurodevelopment, Pediatric Genetics and Neurology, Endocrinology, Orthopedics, Immunology, Physical Therapy and Speech and Language:

The Atypical Learner Conference

Two-thousand and eleven was their first year holding the Atypical Learner Conference. It is designed for parents and caregivers of bright children who might be failing in school. This conference focuses on common causes and explanations for dyslexia, ADHD, speech delay, school failure and behavioral problems that are treatable.

Annual Conference for Children with 49, XXXXY, A Variant of XXY/Klinefelter Sex Chromosomes

Now in its thirteenth year, this is the largest gathering of this rare disorder in the world and families attend from all over the United States and the world. This conference includes a special clinic for the children and expert speakers in several fields.

The next conference will be held July 20-22, 2016.

Annual Conference for Children with 48, XXXY, A Variant of XXY/Klinefelter Chromosomes Disorder

Similar to the conference for children with 49, XXXXY, this conference focuses on children with 48, XXXY, their families and healthcare providers.


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Research

The Early Identification of Infants and Toddlers Who May Be At Some Risk for Developmental Delay, Developmental Language Delay or Autistic Spectrum Disorder, C. Samango-Sprouse

Five years ago The Focus Foundation began a study that focuses on screening infants between four months and one year of age for learning disorders. The goal was to enroll 1,000 infants in the study with the hope of diagnosing children with language-learning disorders (SCD and/or developmental coordination disorder) or Autism Spectrum Disorder at the youngest possible age in order to significantly increase a positive outcome through early identification. They have now collected over 700 typical developing children. This study affords the opportunity to identify infants who have X and Y Chromosome Variations between 9 and 12 months of age who would not be identified until adolescence otherwise. Dr. Samango-Sprouse is Primary Investigator.

Using Robots to Facilitate Child-Child Interaction to Promote Social-Cognitive Behaviors, Phase I, K. Boser, C. Lathan, C. Samango-Sprouse and M. Michalowski

In this study children were introduced to and used Cosmo's Learning System in Davidsonville and showed much promise in terms of attention and focus. During this project, Dr. Samango-Sprouse supported the efforts in content development and delivery as well as participating in recruitment, training therapists, user testing and review of data.

Using Robots to Facilitate Child-Child Interaction to Promote Social-Cognitive Behaviors, Phase II, K. Boser, C. Lathan, C. Samango-Sprouse and M. Michalowski

The aim in this study was to examine ASD children's' reactions to various mechanical toys including remote-controlled robots and mechanized animal toys to determine which features lead to increased social interaction between the mechanical toy and the child and ASD children's interaction with a typically developing (TD) peer in the context of the different mechanical toys. The Focus Foundation sought to extend the results from a single child interacting with these mechanical toys to interactions between two children while engaging with the toys. Shared play was observed in the context of a variety of different robots and/or mechanized animals to see what increased social engagement behaviors.


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References

  • Samango-Sprouse, CA; Gropman, A; Sadeghin, T; Kingery, M; Lutz-Armstrong, M; Rogol, A. Early Effects of Short Course Androgen Therapy on Children with 49, XXXXY Syndrome on Neurodevelopmental Profile. Acta Pædiatrica May 2011.
  • Samango-Sprouse, CA . Expansion of the phenotypic profile of the young child with XXY. Pediatr Endocrinol Rev 2010 Dec; 8 Suppl 1: 160-8
  • Gropman, Andrea, Rogol, A., Fennoy, I., Sadeghin, T., Sinn, S., Jameson, R., Mitchell F., Clabaugh, J., Lutz-Armstrong, M., and Samango-Sprouse, C.A. Clinical Variability and Novel Neurodevelopmental Findings in 49, XXXXY. American Journal of Medical Genetics. Vol. 152A, No. 6. June 2010.
  • Sex Chromosome Disorders: A Very Common but Rarely Diagnosed Disorder appeared as a Special Feature May/June 2011 in the online NeuroDevelopmental Treatment Association (NDTA) website.
  • The Focus Foundation's article explaining the phenotype of Trisomy X is available on the National Organization for Rare Disorders (NORD) website.

Source of the article : Wikipedia

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