News Article | May 10, 2017
Millions of people worldwide are living with X and Y Chromosomal Disorders, often called Sex Chromosome Disorders, and don’t even know it. These disorders commonly cause issues such as anxiety, ADHD and depression when untreated, with symptoms beginning as early as the first year of life with speech and motor delays. Many of these children may be misdiagnosed as mildly autistic or autistic-like without considering if they have an additive X or Y chromosome. The result of these disorders remaining undiagnosed is that these children become victims of bullying and social isolation, as well as experience academic failure, reading disorders, and needless suffering from numerous health issues throughout their lives. These neurodevelopmental difficulties can be resolved or significantly reduced if individuals are properly diagnosed and receive targeted biological treatment based on their chromosomal disorder. Today, The Focus Foundation (http://www.thefocusfoundation.org) announces a collaboration with Boston-based FDNA (http://www.FDNA.com) to accelerate the identification of people affected by X and Y Chromosomal Disorders. By training FDNA’s facial analysis software to pinpoint subtle physical presentations, there will be a greater opportunity for early detection, allowing affected individuals the chance to seek medical interventions that have the potential to be literally life changing. These syndromes involve an abnormal number or structure of the X and Y chromosomes, and include syndromes such as 47, XXY (Klinefelter syndrome occurring in 1 in 650 live male births), 47,XYY (Jacob's Syndrome occurring in 1 in 1,000 live male births), 47,XXX (Triple X occurring in 1 in 900 live female births) and 45, X (Turner syndrome occurring in 1 in 2,000 live female births). According to The Focus Foundation, more than 500,000 people are believed to have 47, XXY disorders in the United States alone, with an equal distribution across all racial, ethnic and socio-economic groups. FDNA’s Face2Gene suite of applications will create facial analysis algorithms that will be used by clinicians globally to help end the diagnostic odyssey for undiagnosed patients and foster early detection and much-needed treatments. Clinicians can also become involved by loading their retrospective XY chromosomal disorder cases into Face2Gene CLINIC, which is available to clinicians globally, at no cost, to facilitate comprehensive and precise genetic evaluations. “By working with The Focus Foundation, clinicians will be able to detect disorders earlier, changing the course of patients’ lives,” said Dekel Gelbman, CEO of FDNA. “Too often, affected children are misdiagnosed as simply having speech or motor delays – this partnership will address this problem.” Focus Foundation and FDNA Call on Patients to Join the Fight: For the collaboration, patients are encouraged to work with The Focus Foundation to include their information in the analysis. The patient information will be de-identified, so the privacy of the patients is protected. FDNA will work with doctors affiliated with The Focus Foundation to analyze the data using the artificial intelligence engine inside FDNA’s application suite, Face2Gene, to develop an algorithm to detect facial correlations to these syndromes, as well as to discover other phenotypic and genetic differences that may help clinicians better recognize and diagnose these syndromes earlier. “This initiative is the fulfillment of a major objective of The Focus Foundation: advocating for an end to the long patient journey undergone by families looking for a diagnosis,” said Dr. Carole Samango-Sprouse, Executive Director and Chief Science Officer of The Focus Foundation. “Our goal is for patients to receive a diagnosis as early as possible so they can access appropriate treatments and timely care.” Researchers globally are also invited to learn more and use the Face2Gene RESEARCH application, available free of charge at http://www.Face2Gene.com, to make their own discoveries for other diseases as part of FDNA’s Year of Discovery initiative. About The Focus Foundation The Focus Foundation is dedicated to helping children and families affected by X and Y Chromosomal Variations. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential. It is the first and only research-based agency exclusively dedicated to identifying and helping children who have developmental dyspraxia and dyslexia: conditions that lead to the identification and care of children who have X and Y Chromosomal Variations. These conditions also lead to language-based disabilities, executive dysfunction and attention-related issues. It is a 501(c)(3), non-profit, human-service foundation specifically created to address the needs of the one in 500 children with these X and Y Chromosomal Disorders. The Focus Foundation strives to help each child develop to his or her fullest potential by assisting in the transformation from vulnerable to powerful, from school failure to class leader, from disabled to able. The foundation advocates for, and facilitates, the research needed for providing the best care to affected children nationally and internationally. For more information, please visit http://www.thefocusfoundation.org About Face2Gene and FDNA Face2Gene is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients. For more information, please visit http://www.fdna.com.
Samango-Sprouse C.A.,George Washington University |
Samango-Sprouse C.A.,The Focus Foundation |
Stapleton E.J.,The Focus Foundation |
Mitchell F.L.,Childrens National Medical Center |
And 4 more authors.
American Journal of Medical Genetics, Part A | Year: 2014
The aim of the study was to examine the impact of familial learning disabilities (FLD) on the phenotypic profile of 47, XXY males and the possibility that 47, XXY males with more severe cognitive deficits may be partially a consequence of familial dyslexia/reading disorder. We wondered if FLD could pose an additional risk for complex neurodevelopmental differences in 47, XXY. The neurodevelopmental profile of males with 47, XXY has been characterized by developmental dyspraxia, language-based learning disorders, executive dysfunction, reading, and attentional deficits. One hundred eighteen boys with 47, XXY diagnosed prenatally who did not receive early hormonal treatment were divided into two groups based on positive histories of FLD and given comprehensive neurodevelopmental evaluations between 36 and 108 months. The assessments included intelligence (nonverbal and verbal), neuromotor (fine and gross), speech, and language. The group with FLD performed significantly lower in multiple neurodevelopmental domains of the Wechsler of VIQ P=0.015, FSIQ P=0.0005, the Brief IQ P=0.0525 of the Leiter, in Auditory Comprehension P=0.0505, Expressive Communication P=0.0055, and neuromotor domains of Manual Coordination P=0.0032, Fine Motor Control P=0.0378, and Motor Coordination P=0.008. Our study demonstrates the influence of FLD on neurodevelopment and expands the phenotypic profile of 47, XXY, suggesting some neurodevelopmental variability is attributable to other factors than the additional X. FLD may increase the vulnerability of the 47, XXY children and anticipatory guidance should be provided to families. © 2014 Wiley Periodicals, Inc.
Samango-Sprouse C.,The Focus Foundation |
Samango-Sprouse C.,George Washington University |
Samango-Sprouse C.,Childrens National Medical Center |
Samango-Sprouse C.,Neurodevelpmental Diagnostic Center for Children |
And 6 more authors.
American Journal of Medical Genetics, Part A | Year: 2015
Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age=11.0), Patient 2 (age=10.9), and Patient 3 (age=6.4) were evaluated using comprehensive neurodevelopmental assessments. Parent questionnaires were completed to assess behavioral and psychosocial domains including executive function, ADHD and anxiety. Nonverbal intelligence quotients were 56, 80, and 91 for Patients 1, 2, and 3, respectively. There were significantly impaired visual motor capacities in graphomotor and perceptual domains below the 5th centile in Patients 1 and 2, and mildly impaired visual perception skills in Patient 3. All three patients had Childhood Apraxia of Speech (CAS) but of varying severity and similar executive dysfunction, externalizing problems and social difficulties. Familial learning disabilities (FLD) in Patient 1 and the co-occurrence of ADHD in Patient's 1 and 2 may contribute to their more impaired cognitive performances relative to Patient 3 who is the second reported case of 48, XXXX to have normal intellect. These distinct and overlapping characteristics expand the phenotypic profile of 48, XXXX and may be used in the counseling of families and treatment of children with 48, XXXX. © 2015 Wiley Periodicals, Inc.
PubMed | The Focus Foundation, Neurodevelpmental Diagnostic Center for Children and Childrens National Medical Center
Type: Case Reports | Journal: American journal of medical genetics. Part A | Year: 2015
Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age = 10.9), and Patient 3 (age = 6.4) were evaluated using comprehensive neurodevelopmental assessments. Parent questionnaires were completed to assess behavioral and psychosocial domains including executive function, ADHD and anxiety. Nonverbal intelligence quotients were 56, 80, and 91 for Patients 1, 2, and 3, respectively. There were significantly impaired visual motor capacities in graphomotor and perceptual domains below the 5th centile in Patients 1 and 2, and mildly impaired visual perception skills in Patient 3. All three patients had Childhood Apraxia of Speech (CAS) but of varying severity and similar executive dysfunction, externalizing problems and social difficulties. Familial learning disabilities (FLD) in Patient 1 and the co-occurrence of ADHD in Patients 1 and 2 may contribute to their more impaired cognitive performances relative to Patient 3 who is the second reported case of 48, XXXX to have normal intellect. These distinct and overlapping characteristics expand the phenotypic profile of 48, XXXX and may be used in the counseling of families and treatment of children with 48, XXXX.
PubMed | Neurodevelopmental Diagnostic Center for Young Children, The Focus Foundation and Childrens National Medical Center
Type: Case Reports | Journal: American journal of medical genetics. Part A | Year: 2016
Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination < 45. On the Receptive One Word Picture Vocabulary Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQs first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patients near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed.
PubMed | The Focus Foundation, George Washington University and Natera
Type: Journal Article | Journal: PloS one | Year: 2016
X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of 46,XX uniparental disomy; 2 cases of 46,XY/46,XX; 23 cases of mosaicism of unknown type; 2 cases of 47,XX,i(X)(q10). Paternal findings include: 2 cases of 47,XXY (1 mosaic); 10 cases of 47,XYY (1 mosaic); 4 partial Y deletions.Single chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X. This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by these disorders. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases.
PubMed | Neurodevelopmental Diagnostic Center for Young Children, Arundel Pediatrics, The Pediatric Group, The Focus Foundation and 2 more.
Type: Journal Article | Journal: Autism : the international journal of research and practice | Year: 2015
Studies have shown an increased head circumference and the absence of the head tilt reflex as possible risk factors for autism spectrum disorder, allowing for early detection at 12 months in typically developing population of infants. Our aim was to develop a screening tool to identify infants prior to 12 months at risk for autism spectrum disorder and developmental learning delay, not affected by literacy or primary parental language, and provide immediate determination of risk for autism spectrum disorder. An abrupt head circumference acceleration and the absence of head tilt reflex by 9 months were used to identify infants at risk for autism spectrum disorder. Stability of early findings was then investigated when compared to comprehensive standardized neurodevelopmental assessment results and complete neurological and genetics evaluations. A total of 1024 typically developing infants were enrolled by 9 months, with 14 identified as at risk for autism spectrum disorder and 33 for developmental learning delay. There was a good positive predictive value for the identification of autism spectrum disorder prior to 12 months. This study demonstrates an efficient means to identify infants at risk for autism spectrum disorder by 9 months of age and serves to alert primary care providers of infants who are vulnerable for autism spectrum disorder before symptoms are discernible by clinical judgment of primary care providers, parental concerns, or by screening questionnaires.