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Indian Pediatrics

, Volume 56, Issue 3, pp 221–228 | Cite as

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

  • Anupam SachdevaEmail author
  • Prachi Jain
  • Vinod Gunasekaran
  • Sunita Bijarnia Mahay
  • Sharmila Mukherjee
  • Randi Hagerman
  • Suma Shankar
  • Seema Kapoor
  • Shalini N Kedia
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Abstract

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 

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Copyright information

© Indian Academy of Pediatrics 2019

Authors and Affiliations

  • Anupam Sachdeva
    • 1
    • 6
    Email author
  • Prachi Jain
    • 1
  • Vinod Gunasekaran
    • 1
  • Sunita Bijarnia Mahay
    • 1
  • Sharmila Mukherjee
    • 2
  • Randi Hagerman
    • 3
  • Suma Shankar
    • 3
  • Seema Kapoor
    • 4
  • Shalini N Kedia
    • 5
  1. 1.Sir Ganga Ram HospitalNew DelhiIndia
  2. 2.Lady Hardinge Medical CollegeNew DelhiIndia
  3. 3.MIND InstituteUC DavisCaliforniaUSA
  4. 4.Maulana Azad Medical CollegeNew DelhiIndia
  5. 5.Fragile X Society; for the Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome CommitteeNew DelhiIndia
  6. 6.Pediatric Hematology Oncology and Bone Marrow Transplantation unit, Institute for Child HealthSir Ganga Ram HospitalNew DelhiIndia

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