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. 2016 Aug;5(3):145–157. doi: 10.5582/irdr.2016.01048

Table 1. Summary of medical problems and management.

Medical problem Prevalence Age of presentation Severity Complications Recommendations Follow up
Growth Low birth weight
  • - FXCRC: 9%

  • - Other studies: 8%

  • - Brain overgrowth 2–5 years

Moderate
  • - Overweight

  • - Lifestyle changes including healthy diet and exercise to minimize problems associated with increased weight

  • - Monitor patient's weight, height and head circumference closely in each visit

Preterm
  • - FXCRC: 16%

  • - Other studies: 12%

  • - Height deceleration: after puberty

Otitis media
  • - FXCRC: 55%

  • - Other studies: 45–85%

Childhood Mild
  • - Acute sinusitis

  • - Recurrent otitis media

  • - Exacerbate the cognitive and language deficits

  • - Conductive hearing loss

  • - Pneumococcal and influenza vaccines

  • - Breastfeeding for at least 4–6 months

  • - Eliminate passive exposure to tobacco smoke

  • - Reduce pacifier and bottle usage

  • - Antibiotic therapy

  • - Ear tubes placement

  • - Surveillance of the potential adverse effects of antibiotic prophylaxis including hypersensitivity reaction and gastrointestinal problems

Seizures
  • - FXCRC: 10 %

  • - Other studies: 12–18%

Early childhood Mild to severe
  • - Developmental and behavioral morbidity

  • - Educate parents and follow up patients with history of seizures

  • - Carbamazepine

  • - Valproic acid

  • - EEG

  • - Drug-specific blood test

  • - Discontinue medication after patient is seizure-free for 2 years unless EEG is abnormal

Mitral valve prolapse
  • - FXCRC: 0.8%

  • - Other studies: 50%of males and 20% of females

Childhood to adolescence Mostly asymptomatic
  • - Rarely mitral regurgitation, congestive heart failure and endocarditis

  • - Mitral valve repair or replacement rarely required

  • - Surveillance cardiac evaluation

Gastrointestinal problems
  • - FXCRC: 2%–8%

  • - Other studies: 11%

Childhood to adolescence Mild
  • - Failure to thrive

  • - Irritability

  • - Behavioral problems

  • - Thickening agents

  • - Antacids

  • - Histamine-2 blockers

  • - Proton pump inhibitors

  • - Surveillance on height and weight

Sleep problems
  • - FXCRC: 26.9%

  • - Other studies: 32%–47%

Infancy and childhood Mild to moderate
  • - Disturbance in daytime performance

  • - Behavioral problems

  • - Behavioral intervention

  • - Melatonin

  • - Clonidine

  • - Monitor the side effects of sleep medications

  • - Careful history of sleep habits

Obstructive sleep apnea
  • - FXCRC: 7%

  • - Other studies: 21–32%

Childhood Moderate to severe
  • - Vigilance impairment and neuropsychological deficit

  • - Decrease in day time performance

  • - Increase in behavioral problems

  • - Steroids to reduce tonsillar hypertrophy

  • - Continuous positive airway pressure

  • - Surgical intervention including tonsillectomy

  • - Behavioral therapy

  • - Monitoring and managing obstructive sleep apnea in every child visit

  • - Refer to sleep specialist

Strabismus
  • - FXCRC: 17%

  • - Other studies: 8%

Early childhood Mild to moderate
  • - Amblyopia

  • - Corrective eyeglasses

  • - Visual training exercise

  • - Surgery

  • - Comprehensive ophthalmologic examination of every child with FXS by age 4 or sooner if strabismus is detected

Tic disorder
  • - FXCRC: 6%

  • - Other studies: 15%

Before 18 years of age Mild
  • - Usually uncomplicated

  • - Educational and supportive approach

  • - Medications rarely necessary

  • - Long term relationships to improve patients self-esteem and coping with their tics

Toileting issues 49% Delayed several years Mild to moderate
  • - Enuresis

  • - Encopresis

  • - Behavioral therapy

  • - Desmopressin

  • - Fiber supplements in case of constipation

  • - Toileting counselling by 1 year of age

Sensory integration problem 20%–50% Early childhood Moderate to severe
  • - Lack of participation in activities that are necessary for brain development

  • - Medications related to inattention, anxiety, aggression and autonomic symptoms

  • - OT therapy

  • - Assessment tools such as sensory profile questionnaire, etc.

FXCRC: Fragile X Clinical and Research Consortium Study; FXS: Fragile X syndrome.