Discovering Fragile X Syndrome: Family Experiences and Perceptions

Abstract

We used surveys from 274 families who had at least 1 child with fragile X syndrome (FXS) to determine their experiences in discovering FXS, factors associated with the timeliness of discovery, and the perceived consequences of obtaining this information. For families of male children who were born in the last decade, someone first became concerned about the child's development at an average age of 13 months. Professional confirmation of a developmental delay did not occur until an average age of 21 months, and a FXS diagnosis occurred at an average age of nearly 32 months. Families reported several barriers to discovering FXS and frustration with the process. Many families had additional children with FXS without knowing reproductive risk. A range of perceived benefits and challenges associated with the discovery were reported. We conclude that selected pediatric practices could promote earlier identification but in only a limited way and predict that disorders such as FXS will continue to challenge current criteria for determining viable candidate disorders for newborn screening.

Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening

“…Identifying an etiology also can affect various aspects of treatment planning, including specific prognostic information, genetic counseling around recurrence risk and family planning, specific medical treatments for improved health and function of the child, and therapeutic intervention programming. 38 An underlying etiology will be identified in approximately one quarter of cases of delayed development, with higher rates (Ͼ50%) in children with global developmental delays and motor delays and lower rates (Ͻ5%) in children with isolated language disorders. 39 This evaluation can be performed by a trained and skilled pediatrician; a pediatric subspecialist such as a neurodevelopmental pediatrician, child neurologist, or developmental/behavioral pediatrician; or through affiliated medical professionals such as pediatric geneticists or physiatrists.…”

Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice

“…Therefore, assuming the same developmental kinetics of PAK inhibition applies to dMT mice, our data suggest that the phenotypes of FMR1 KO mice could be restored, at least partially, by PAK inhibition that did not take place until a few weeks after the appearance of disease symptoms. In human FXS patients, symptoms like developmental delay appear as early as 9-12 months of age and typically diagnosis follows shortly after (32,33). This finding implies that PAK inhibition could be an effective postdiagnostic therapy for FXS children.…”

Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study?

“…9 Delayed diagnosis has significant consequences for children (e.g., inability to participate in early intervention) and families (e.g., long diagnostic odysseys, costs in finding a correct diagnosis, and/or a second affected child). [9][10][11] Newborn screening for FXS could benefit affected children and families but has not been included on state screening panels because it lacks a proven medical treatment that must begin early. In addition, screening relies on a DNA-based assay that Purpose: To determine whether a brochure based on principles of informed decision making improved attention to study materials or altered decisions made by parents invited to participate in a fragile X syndrome newborn screening study.…”