Table 2. Interventions for children with Fragile X syndrome and their families across different ages.
| Prenatal | Neonate (Birth - 27d) | Infant (28d-12m) | Toddler (13m-2y) | Early childhood (2-5y) | Middle Childhood (6-11y) | Adolescent (12-18y) and young adult (18-21a) | |
|---|---|---|---|---|---|---|---|
| Genetics | |||||||
| Reproductive counseling for parents: Education, prognosis and risk of recurrence | x | x | x | x | x | x | |
| Molecular diagnosis in the pregnant woman | x | ||||||
| Routine prenatal care | x | ||||||
| Molecular diagnosis in the patient | x | x | x | x | x | x | |
| Neurodevelopment | |||||||
| Evaluate developmental milestones | x | x | x | x | x | ||
| Auditory screening with brainsteam evoked potentials or otoacustic emissions | x | x | |||||
| Determine Intellectual Quotient and evaluate higher mental functions | x | x | x | x | |||
| Evaluate autism spectrum disorder behavior and sensorial integration, diagnostic tests | x | x | x | x | |||
| Neurologic | |||||||
| Ask about seizures (generalized, partial and absence). Electroencephalogram only if suspected | x | x | x | x | |||
| Evaluate the presence of motor tics | x | x | x | ||||
| Psychiatric | |||||||
| Inquire for depression and anxiety. Behavioral and pharmacologic treatment according to medical criteria | x | x | x | ||||
| Inquire for attention deficit and hyperactivity. Behavioral and pharmacologic treatment according to medical criteria | x | x | x | ||||
| Inquire for aggressiveness. Behavioral and pharmacologic treatment according to medical criteria | x | x | x | ||||
| Inquire for insomnia. Behavioral and pharmacologic (melatonin) treatment according to medical criteria | x | x | x | x | x | ||
| Psychological services | |||||||
| Therapy for the family and caregiver | x | x | x | x | x | x | |
| Cognitive behavioral therapy | x | x | x | ||||
| Promote self-care abilities | x | x | |||||
| Sexual and reproductive education: control of problematic behaviors, consider desire for reproduction, educate on contraception and sexually transmitted diseases | x | ||||||
| Vocational education, develop independent living skills | x | ||||||
| Rehabilitation | |||||||
| Physical therapy: muscular strengthening, stability and proprioception | x | x | x | x | x | ||
| Occupational therapy: develop activities of daily living skills, productivity, planning and leisure activities | x | x | x | x | x | ||
| Speech therapy: feeding therapy if needed, speech exercises, tactile orofacial stimulation | x | x | x | x | x | ||
| Education | |||||||
| Special education as needed. Develop an individualized educational plan adjusted to cognitive capacity | x | x | x | ||||
| Education for educators about the condition | x | x | x | ||||
| Craniofacial | |||||||
| Head circumference follow-up with growth curves for the age | x | x | x | x | x | ||
| Otorhinolaryngology | |||||||
| Otoscopy on every visit | x | x | x | x | x | ||
| Inquire about otitis media. In case of chronic otitis media, audiometry and interventions such as ventilation (PE) tubes | x | x | x | ||||
| Annual odontologic evaluation | x | x | x | x | |||
| Ophthalmology | |||||||
| Complete ophthalmologic examination | x | x | x | x | x | x | |
| Interventions if strabismus persists or appears | x | x | x | ||||
| glasses if needed | x | x | x | ||||
| Connective tissue abnormalities | |||||||
| Search for congenital hip dysplasia, clubfoot, or hernia | x | ||||||
| Apply Brighton criteria for joint hypermobility. If positive or if mother delays or hypotonic, offer physical therapy | x | x | x | ||||
| Orthopedic consultation if pes planus, joint instability, severe foot pronation or scoliosis is observed | x | x | x | ||||
| Cardiovascular | |||||||
| Auscultation and blood pressure testing at each consultation | x | x | x | x | x | x | |
| Echocardiogram if findings suggestive of mitral valve prolapse (murmur or click) | x | x | x | x | x | x | |
| Respiratory | |||||||
| Promote vaccination against pneumococcus and influenza | x | x | x | x | x | ||
| Discourage tobacco use or illicit drugs or excessive alcohol | x | x | |||||
| Inquire for symptoms of obstructive sleep apnea-hypopnea syndrome (daytime sleepiness, snoring, restless sleep). Perform polysomnography with oximetry if suspected | x | x | x | x | |||
| Gastrointestinal | |||||||
| Ask for feeding problems (vomiting, poor suck) and refer to nutrition if needed | x | x | x | x | x | x | |
| Promote an adequate alimentation technique: appropriate food, intake in a sitting position | x | x | x | x | |||
| Evaluate bowel habits (constipation, encopresis) toilet training and adequate wiping after stooling | x | x | x | x | |||
| Studies for gastroesophageal reflux disease and refer to gastroenterology if symptoms are present | x | x | x | x | x | ||
| Genitourinary | |||||||
| Evaluate development of macroorchidism with orchidometer | x | x | |||||
| Search for inguinal hernias | x | x | x | ||||
| Evaluate the presence of enuresis | x | x | x | x | |||
| Inquire about recurrent urinary tract infection. If present, refer to urology | x | x | x | x | |||
| Endocrine | |||||||
| Measure weight and height. Follow with growth curves | x | x | x | x | x | x | |
| Evaluate secondary sexual characters in the search for early puberty | x | x | |||||
| Metabolic | |||||||
| Promote healthy life habits | x | x | |||||
| Family support | |||||||
| Promote community integration and Fragile X syndrome organizations | x | x | x | x | x | x | x |
| Provide reliable and accessible information sources | x | x | x | x | x | x | x |
| Offer cascade testing for diagnosis | x | x | x | x | x | x | x |
| Dental health | |||||||
| Regular visits to the dentist | x | x | x | x | |||