INDIAN PEDIATRICS 221 VOLUME 56 __ MARCH 15, 2019 Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India ANUPAM SACHDEVA 1 , PRACHI JAIN 1 , VINOD GUNASEKARAN 1 , SUNITA BIJARNIA MAHAY 1 , SHARMILA MUKHERJEE 2 , RANDI HAGERMAN 3 , SUMA SHANKAR 3 , SEEMA KAPOOR 4 AND SHALINI N KEDIA 5 From 1 Sir Ganga Ram Hospital, 2 Lady Hardinge Medical College, and 4 Maulana Azad Medical College, New Delhi, India; 3 MIND Institute, UC Davis, California, USA; and 5 Fragile X Society, India; for the Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee. Correspondence to: Dr Anupam Sachdeva, Director, Pediatric Hematology Oncology and Bone Marrow Transplantation unit, Institute for Child Health, Sir Ganga Ram Hospital, New Delhi, India. anupamace@yahoo.co.in Justification: Fragile X Syndrome (FXS) is the most common genetic cause of inherited intellectual disability and autism spectrum disorder (ASD). Early identification results in appropriate management and improvement in functioning. Risk assessment in other family members can lead to prevention of the disorder. This necessitated the formulation of IAP recommendations for the diagnosis and management 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 of Pediatrics 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 Parent Organizations. 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 appropriate management. The interventions including timely occupational therapy, speech therapy and behavioral modifications help to improve the developmental potential and reduce the maladaptive behavior. Pharmacotherapy may be needed to control and improve behavioral symptoms. In addition, the emergence of targeted treatments such as low dose sertraline, metformin and /or minocycline may also be helpful for behavior, and perhaps cognition. Genetic counselling is helpful to communicate the risk for future children with FXS or permutation involvement. Keywords: Genetic counselling, Intellectual deficit, Outcome. RECOMMENDATIONS F ragile X syndrome (FXS) is the most common cause of inherited intellectual disability and is the second most prevalent genetic cause after Down syndrome. It is also the most common known single gene cause of autism spectrum disorder (ASD) [1]. FXS is estimated to affect 1 in 5,000 men and 1 in 4,000 to 6,000 women worldwide (determined by molecular assay) [2]. Though the exact prevalence in India is not known, it is probably a significant cause of intellectual disability of unknown etiology in our country [3,4]. The objective of these recommendations is to contribute to the dissemination of knowledge on FXS among health professionals, and thus improve the diagnosis and management of these patients. METHODS The meeting on formulation of National consensus guidelines on Fragile X syndrome was organized by Indian Academy of Pediatrics in New Delhi on 25th February 2017. The invited experts included Pediatricians, Developmental Pediatricians, Psychiatrists, Pediatric Neurologists, Geneticists, Obstetrician and Gyneco- logists, Clinical Psychologists, Remedial Educators, and members of Parent Organizations. Guidelines were framed after extensive discussions. A writing committee was formed that drafted the manuscript, circulated these among members for critical appraisal, and finalized the recommendations. RECOMMENDATIONS Clinical Suspicion Clinicians should have a high index of suspicion in any male with intellectual disability (ID) or autistic spectrum disorder (ASD). These children should be examined for the characteristic facial features (long narrow face, prominent jaw, large and protruded ears) and macro- orchidism. Various phenotypic characteristics that can be