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Fragile X Syndrome Checklist

Introduction

Once thought of as a typical X-linked recessive condition, Fragile X is now understood as a family of disorders which affects both males and females. It differs from other X-linked conditions in three important ways:

  • Both males and females can have fragile X syndrome (though females are usually more mildly affected)
  • Both males and females can be "carriers" of the Fragile X gene and pass it on to their children
  • Carriers of the Fragile X gene can develop one of the Fragile X- associated disorders; - female carriers can have ovarian insufficiency, infertility and early menopause and male (and less frequently female) carriers can develop an adult onset neurological condition called fragile X- associated tremor/ataxia syndrome (FXTAS).

    Please use the following table to assess the probability that a patient might be affected by Fragile X.

Physical Features
(males and some females, except where noted)

Behavioral, Intellectual,  and Social Characteristics  (toddlers, school  age children and beyond)

Difficulties for Adults (in addition to characteristics listed at left)

Issues Common in Females including some carriers (females are usually less affected than males, but  may have some of the features listed at left as well as these)

Important Family History Questions-
( positive family history increases possibility of Fragile X)

 

Large /protruding ears

Recurrent otitis media in childhood

Soft skin

Flexible joints ( particularly fingers, wrists, elbows)

Low muscle tone

Flat feet

Long face

Large testicles  (males)

Seizure disorder

Speech and language delay

Motor delay (late crawling, walking, toileting)

Tactile defensiveness and sensory overload (high sensitivity to various fabrics/clothing, loud noises, crowds, food textures & tastes, etc.)

Hand-flapping, hand-biting

Impulsivity

Poor eye contact/gaze aversion

Autism spectrum disorders
ADHD  (attention deficit/hyperactive disorder)

Mental  retardation, cognitive impairment or intellectual disability

Managing transitions to new schools, programs  or employment

Learning adult living skills such as using transportation and money

Managing emotional upsets without aggressive behavior

Making and sustaining friendships

Visual-spatial challenges like reading maps and graphs

Executive functioning (the ability to formulate,
execute, and carry out a plan)

Mathematics

Shyness or social anxiety

Poor communication skills

Difficulty in picking up “social cues”

Anxiety, mood swings and depression

Family history of learning disabilities, mental impairment, including autism and other behavioral disorders

Family history of female relatives with infertility, early or premature menopause (symptoms in some females Fragile X carriers)

Family history of adults (particularly men) with late (after 50) onset neurological findings including intention tremor, ataxia, memory or cognitive decline, personality or psychiatric changes (symptoms in some older Fragile X carriers)

 

 
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