Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India

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dc.contributor.authorSachdeva, Anupamen_US
dc.contributor.authorJain, Prachien_US
dc.contributor.authorGunasekaran, Vinoden_US
dc.contributor.authorMahay, Sunita Bijarniaen_US
dc.contributor.authorMukherjee, Sharmilaen_US
dc.contributor.authorHagerman, Randien_US
dc.contributor.authorShankar, Sumaen_US
dc.contributor.authorKapoor, Seemaen_US
dc.contributor.authorKedia, Shalini Nen_US
dc.date.accessioned2020-04-23T07:43:55Z
dc.date.available2020-04-23T07:43:55Z
dc.date.issued2019-03
dc.description.abstractJustification:Fragile X Syndrome (FXS) is the most common genetic cause of inherited intellectual disability and autism spectrumdisorder (ASD). Early identification results in appropriate management and improvement in functioning. Risk assessment in other familymembers can lead to prevention of the disorder. This necessitated the formulation of IAP recommendations for the diagnosis andmanagement of FXS in Indian children and adolescents.Process:The meeting on formulation of national consensus guidelines on Fragile X syndrome was organized by the Indian Academy ofPediatrics in New Delhi on 25th February, 2017. The invited experts included Pediatricians, Developmental Pediatricians, Psychiatrists,Pediatric Neurologists, Gynecologists, Geneticists, Clinical Psychologists and Remedial Educators, and representatives of ParentOrganizations. Guidelines were framed after extensive discussions. A writing committee was formed that drafted the manuscript,which was circulated among members for critical appraisal, and finalized.Recommendations: The committee recommended that early diagnosis of FXS is crucial for early, timely and appropriatemanagement. The interventions including timely occupational therapy, speech therapy and behavioral modifications help to improve thedevelopmental potential and reduce the maladaptive behavior. Pharmacotherapy may be needed to control and improve behavioralsymptoms. In addition, the emergence of targeted treatments such as low dose sertraline, metformin and /or minocycline may also behelpful for behavior, and perhaps cognition. Genetic counselling is helpful to communicate the risk for future children with FXS orpermutation involvement.en_US
dc.identifier.affiliationsSir Ganga Ram Hospitalen_US
dc.identifier.affiliationsLady Hardinge Medical Collegeen_US
dc.identifier.affiliationsMaulana Azad Medical College, New Delhi, Indiaen_US
dc.identifier.affiliationsMINDInstitute, UC Davis, California, USA; and 5Fragile X Society, Indiaen_US
dc.identifier.affiliationsIndian Academy of Pediatrics Consensus in Diagnosisand Management of Fragile X Syndrome Committeeen_US
dc.identifier.citationSachdeva Anupam, Jain Prachi, Gunasekaran Vinod, Mahay Sunita Bijarnia, Mukherjee Sharmila, Hagerman Randi, Shankar Suma, Kapoor Seema, Kedia Shalini N. Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India. Indian Pediatrics. 2019 Mar; 56(3): 221-228en_US
dc.identifier.issn0974-7559
dc.identifier.issn0019-6061
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/199288
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber3en_US
dc.relation.volume56en_US
dc.source.urihttps://www.indianpediatrics.net/mar2019/221.pdfen_US
dc.subjectGenetic counsellingen_US
dc.subjectIntellectual deficiten_US
dc.subjectOutcome.en_US
dc.titleConsensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in Indiaen_US
dc.typeJournal Articleen_US
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