Physical Problems in Fragile X
occupational therapy neurology
GUIDELINES OF CARE IN FRAGILE X SYNDROME
3. A developmental team evaluation including audiology occupational therapy (OT)
Educational Recommendations for Fragile X Syndrome - General
Related services such as speech/language occupational therapy
An Introduction to Assessing Children With Fragile X Syndrome
Note that while the MD or a psychologist may conduct neuromotor testing an occupational therapist and/or physical therapist is best trained to administer and
BEHAVIORAL CHALLENGES IN FRAGILE X SYNDROME
At this time there is no cure for the condition; therefore
Fragile X Syndrome
can help lessen the effects of this condition. These include: - Therapies including speech/language therapy
Sensory Processing and Integration Issues in Fragile X Syndrome
They often refer individuals for necessary services including occupational
GENERAL EDUCATIONAL GUIDELINES FOR STUDENTS WITH
For individuals with fragile X syndrome (FXS) a variety of services and programs are Physical therapy: Physical therapists generally focus on gross motor ...
Early Childhood Developmental and Educational Guidelines for
like fragile X syndrome (FXS) inclusive
Educational Recommendations for Fragile X Syndrome
Information may be obtained from parents teachers
Physical Problems in Fragile X
Fragile X syndrome (FXS) is a medical disorder caused by a mutation in the FMR-1 Hypotonia: Evaluation and management by physiotherapy is recommended.
GUIDELINES OF CARE IN FRAGILE X SYNDROME
3. A developmental team evaluation including audiology occupational therapy (OT)
Fragile X Syndrome
Fragile X Syndrome is caused by a mutation on the X chromosome Therapies
Fragile X Syndrome
21 juil. 2010 genetic defect that causes fragile X syndrome has been characterized. Advances in molecular genetics ... Occupational and physical therapist.
Educational Recommendations for Fragile X Syndrome - General
For individuals with fragile X syndrome (FXS) a variety of services and services such as speech/language
General Educational Guidelines for Students with Fragile X Syndrome
For individuals with fragile X syndrome (FXS) a variety of services and programs are services
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
9 févr. 2022 Abstract: Fragile X syndrome (FXS) is a neurodevelopmental disorder ... early interventions for FXS such as physical therapy (PT) oc-.
educational recommendations for fragile x syndrome - elementary
education classroom with support staff (paraprofessional SLP
Sensory Processing and Integration Issues in Fragile X Syndrome
They often refer individuals for necessary services including occupational
Consensus of the Fragile X Clinical & Research Consortium on
Educational Guidelines for Fragile X Syndrome: General physical therapy audiology
Benefits of Physical Exercise for Individuals with Fragile X Syndrome
Recent studies report an association between the therapeutic potential of physical exercise and autistic individuals with fragile X syndrome Physical exercise
[PDF] Physical Problems in Fragile X Syndrome
Fragile X syndrome (FXS) is a medical disorder caused by a mutation in the FMR-1 Hypotonia: Evaluation and management by physiotherapy is recommended
[PDF] GUIDELINES OF CARE IN FRAGILE X SYNDROME
A developmental team evaluation including audiology occupational therapy (OT) physical therapy (PT) psychology speech and language and pediatrics should
Three Faces of Fragile X Physical Therapy - Oxford Academic
Fragile X syndrome (FXS) is the first of 3 syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction
[PDF] Fragile X Syndrome - University of Northern Colorado
Most males with Fragile X syndrome have mild to moderate intellectual disability while about one-third of females who are affected are intellectually
[PDF] Fragile X Syndrome - UNM Health
Fragile X Syndrome is caused by a mutation on the X chromosome Therapies including speech/language therapy occupational therapy and physical therapy
Therapeutic Strategies in Fragile X Syndrome - Springer Link
19 mai 2015 · Occupational therapy physical therapy and speech therapy should all be accessed at the maximum level allowed so as to maximize early growth
[PDF] Fragile X Syndrome - Salud infantil
21 juil 2010 · genetic defect that causes fragile X syndrome has been characterized by a speech and language therapist physical therapist and
[PDF] Fragile X At a Glance - New England Regional Genetics Network
Fragile X syndrome is a condition characterized by intellectual evaluation and occupational/physical therapy evaluation) are recommended for planning
How does physical therapy help with fragile X syndrome?
Fragile X syndrome is a genetic condition caused by changes to the X chromosome. Physiotherapy can help in the treatment and management of the physical symptoms of Fragile X syndrome by increasing muscle strength, normalising tone and increasing your child's ability to participate in a variety of activities.What therapy is used for fragile X syndrome?
Treatment of Fragile X Syndrome. There are many helpful educational and behavioral strategies, as well as Occupational Therapy (OT), Physical Therapy (PT), and Speech Therapy (SLP), to help. An extensive array of medications is available to manage symptoms.What are four physical characteristics of a patient with fragile X syndrome?
These features include a long and narrow face , large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet , and in males, enlarged testicles (macroorchidism) after puberty.- Therapeutic interventions in FXS To date, treatment of patients with FXS is symptomatic. The two most widely used medications are stimulants that help with attention and hyperactivity and selective sero- tonin reuptake inhibitors that can reduce aggression as- sociated with anxiety (www.fragilex.org/html/medications.
Physical Problems in Fragile X Syndrome
First Issued: June 2011
Updated: October 2012
1 | Page
Physical Problems in Fragile X Syndrome
Introduction
Fragile X
syndrome (FXS) is a medical disorder caused by a mutation in the FMR-1 gene. Its systemic effects are most noticeable in the cognitive behavioral domain, but multiple associated physical problems mostly related to loose connective tissue can occur. These include hypotonia, hyperflexibility, flat feet, recurrent ear infections and mitral valve prolapse. Seizures, precocious puberty and ophthalmic issues can also be present. At this time there is no definitive specific treatment for these problems. Management is therefore largely empiric and, depending upon the individual, may include drug and/or other modalities but typically involves the combined efforts of a multidisciplinary team including ideally, psychology, developmental and behavioral pediatrics, neurology, speech and occupational therapy, neurology, psychiatry and genetics.Diagnosis/Recognition
Diagnosis of FXS is the key to management. The disorder should be tested for in every child (male or female) with unexplained intellectual disability as well as in the offspring of premutation and full mutati on carrier mothers, and considered for girls with significant processing and behavioral issues. Following diagnosis, potential problems should be actively investigated and managed accordingly. This evaluation can be carried out systemically as, for example, via the guideline below taken from the Fragile X Healthwatch table, which includes specific recommendations for the following: A detailed history, actively enquiring for motor and language delays, autistic symptoms, behavioral profile, characterization of sleep, feeding, seizures, ear infections, dislocations, and in girls, relevant menstrual history.A detailed physical exam, specifically check for hypotonia, heart murmur, blood pressure, flexibility, pes planus, joint dislocations, hernias, scoliosis, weight,
strabismus/refraction, dentition and, if applicable, signs of puberty.Evaluation specifically for speech and hearing; fine motor and sensory integration (occupational therapy evaluation); psychometrics (IQ, behavioral profile including
evaluation for anxiety, ADHD and autism when clinically indicated)Current Treatment Guidelines
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Physical Problems in Fragile X Syndrome
Cognitive deficits: Developmental & Behavioral pediatricians and psychologists should provide a working plan, ideally integrated with the early intervention service or the school's IEP (Individualized Education Program). Speech is typically delayed and speech and language pathology should be involved if there is any deficit , as assisting communication is typically a complex issue. Cognitive services may need to be coordinated with behavioral and sensory recommendations. Behavioral issues: Following assessment by the psychologist and occupational therapist, a plan should be devised, again ideally integrated with school services. Additional in- home support may be needed. Not infrequently, pharmacologic intervention is necessary. It should always be provided together with behavior therapy. In general medications for similar mental health concerns used in children without FXS (stimulants, alpha agonists, SSRI's, atypical antipsychotics) are also useful for children with FXS. Medications generally to be avoided include gabapentin (which appears to be unhelpful) and topamax (because of its cognitive dulling effect). A number of other medications which function as mGluR antagonists and may be specifically helpful for individuals withFXS are being currently being evaluated.
Ear infections: Early referral to an otolaryngologist is recommended, as many children with FXS will need myringotomy tubes. The majority suffer from recurrent ear infections, for which an aggressive approach is recommended. Hypotonia: Evaluation and management by physiotherapy is recommended. Ideally, early intervention services will commence in infancy. Seizures: Typically these occur post infancy/early childhood and are often complex partial, though all types of seizures can occur. Usually they are readily managed on standard monotherapy, though care should be taken to avoid drugs which cause connective tissue hyperplasia e.g. phenytoin , as this can be disfiguring. EEG abnormalities are more common than frank seizures, and any suspicion of seizure should be evaluated by a neurologist, ideally one with experience in FXS. Medications proven to be helpful include carbamazepine and valproic acid. Good results are also occurring with newer generation AEDs. Autism: Applied behavior analysis therapy is recommended, likely provided in conjunction with sensory integration techniques. It is also important to note that gaze aversion is a sensory overstimulating effect in individuals with FXS, rather than a reflection of socially cued indifference. Connective Tissue Problems (pes planus, scoliosis, pectus excavatum, hyperflexibility): Orthotic support (and occasionally braces) are often required, as is referral to orthopedics.3 | Page
Physical Problems in Fragile X Syndrome
Heart murmur: Mitral valve prolapse occurs at a greater frequency in FXS from late adolescence onwards. However, if there are concerns, an echocardiogram or cardiology evaluation should be undertaken.Common Q & A
What should I tell my patients?
Fragile X syndrome is a genetic disorder with cognitive/behavioral and systemic effects that are present in varying degrees from one individual to another. There is no cure but there are treatments that can help the symptoms and signs. Life expectancy is in the normal range though affected individuals will typically need life-long support and care. IQ for males is typically in the 50-70 range, but with areas of relative strength. Females are often in the borderline-to-normal IQ range, though some are as affected as males. Novel research treatments are currently under investigation, which may improve the outlook for the future. As the disorder is genetic, it is important to ensure that no other family members are affected or at risk for symptoms related to being a carrier (seeFXTAS/FXPOI guidelines -
What are the expected benefits/side effects of treatment? An active approach to treatment can ensure that affected individuals will optimize their potential. In addition, affected individuals are often responsive to standard treatments, though as with all people, side effects may have an impact. Given the cognitive/behavioral aspects of the condition, side effects may present primarily as behavioral or atypical changes.What to do in acute situations?
In general, FXS does not cause acute emergency problems. In rare cases, seizures will require emergency treatment and should be managed in the acute setting as they are with individuals without FXS. More commonly, behaviorally related problems such as aggressive outbursts or impulsive running away will precipitate a crisis situation. In such instances, the child should be taken to a familiar location with a "safe" room. This will usually allow the trauma to recede and the precipitant can be managed in a calmer manner.Additional Resources
Alanay Y, Unal F, Turanli G, A
likasifoglu M, Alehan D, Akyol U, et al. A multidisciplinary approach to the management of individuals with fragile X syndrome. J.Intellect.Disabil.Res. 2007Feb;51(Pt 2):151
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Physical Problems in Fragile X Syndrome
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al. Advances in the treatment of fragile X syndrome. Pediatrics 2009 Jan;123(1):378-390.Fragile X Syndrome Health Watch Table -
http://www.surreyplace.on.ca/Documen ts/Fragile%20X%20Syndrome.pdf Forster-Gibson, Cynthia, MD, PhD; Berg, Joseph M, MB, BCH, MSC, FRCPSYCH, FCCMGConsideration Recommendation
1. HEENT (Head, Ears,
Eyes, Nose, Throat)
Children: Strabismus,
refractive errors, recurrent otitis media and sinusitis are common ł Undertake newborn screening and auditory brainstem response (ABR). Arrange comprehensive ophthalmologic examination by 4 years of ageł Visualize tympanic membranes at each visit
Adults: Strabismus,
refractive errors are common ł Undertake hearing and vision screening at each visit, with particular attention to hearing loss and myopia2. Dental
Children & Adults: High
arched palate and dental malocclusion are commonł Initiate annual dental exam
3. Cardiovascular
Children: Mitral Valve
Prolapse (MVP) is
uncommon in children during adolescence ł Auscultate for murmur or click at each visit. If present, do ECG and echocardiogram; refer to cardiologist if indicatedAdults: MVP is common
dil ation usually not progressive.Hypertension may be
related to anxiety ł Undertake clinical exam, ECG and echocardiogram with referral to cardiologist as appropriate ł Measure BP at each visit but at least annually5 | Page
Physical Problems in Fragile X Syndrome
4. Respiratory
Children: Obstructive
sleep apnea (OSA) may be due to enlarged adenoids, hypotonia, or connective tissue dysplasiał Ascertain sleep history for signs of OSA
ł Do sleep study as appropriate
Adults: Obstructive sleep
apnea (OSA) may occurł Recommendations as for children
5. Gastrointestinal
Children: In infants,
feeding problems are common with recurrent emesis associated withGastroesophageal Reflux
ł Refer for assessment of gastroesophageal reflux disease (GERD). Thickened feedings and upright positioning may be adequate treatment6. Genitourinary
Children: Inguinal hernia is
relatively common in males. Macroorchidism generally develops in late childhood/early adolescence.Persistent ureteral reflux
may occur ł Assess for inguinal hernia beginning at age 1 yearł Macroorchidism can be measured with an orchidometer and reassure parents that it does not require treatment
ł Evaluate recurrent urinary tract infections (UTI) with cystourethrogram and renal ultrasound and refer to nephrology or urology as needed
ł Consider renal etiology for persistent hypertensionAdults: Inguinal hernia is
relatively common in males. Macroorchidism persistsł Assess periodically for inguinal hernia
ł Macroorchidism does not require treatment
7. Sexual function
Adults: Males and females
are fertile ł Consider discussion of recurrence risk and reproductive options as a basis for referral to a genetics clinic. Make such a referral even if FXS is only suspected so that molecular testing can be undertaken in person concerned and relevant family members6 | Page
Physical Problems in Fragile X Syndrome
8. Musculoskeletal
Children: Hyperextensible
joints and pes planus are common. Scoliosis, clubfoot, joint dislocation (particularly congenital hip) may also occur ł Undertake physical exam at birth and then every 4 monthsł Elicit history of dislocations
ł Make orthopedics referral as dictated by clinical findingsł Consider physiotherapy referral, orthotics
Adults: Hyperextensible
joints and pes planus are common. Scoliosis, joint dislocation may also occurł Assess at regular physical exam
ł Make orthopedics referral as dictated by clinical findingsł Consider physiotherapy referral, orthotics
9. Neurology
epilepsy (may include generalized tonic-clonic seizures, staring spells, partial motor seizures and temporal lobe seizures) ł Ascertain history of seizures which usually present in early childhood ł Arrange EEG if seizures are suspected from medical history ł Obtain neurology consult as dictated by clinical findingsAdults: Seizures
occasionally persist into adulthood ł Assess for atypical seizures if suspicious symptoms exist or intellectual function decreases ł Arrange EEG if seizures are suspected from medical history ł Obtain neurology consult as dictated by clinical findings11. Endocrine
Children: Precocious
puberty may occur ł Include attention in clinical examination to signs of precocious puberty in females. Refer to endocrinologist for consideration of use of gonadotropin agonist to block precocious puberty ł Note presence of macroorchidism and reassure parents Adults: Ascertain history with attention to menstruation, anxiety, depression and mood lability. If PMS symptoms are severe enough, consider a serotonin agent to stabilize mood © Developmental Disabilities Primary Care Initiative July 20097 | Page
Physical Problems in Fragile X Syndrome
Author note: This guideline was authored by Jonathan Picker, MD, PhD, and Carol Delahunty, MD, and was and reviewed and edited by consortium members both within and external to its Clinical PracticesCommittee
. It has been approved by and represents the current consensus of the members of theFragile X Clinical & Research Consortium.
Funding: This project was made possible by Cooperative Agreement U01DD000231 from the Centers forDisease Control and Preventi
on to the Association of University Centers on Disabilities (AUCD) and RTOI 2008-999-03 from AUCD to W.T. Brown in support of the National Fragile X Clinical and Research
Consortium. The findings and conclusions in this report are those of the authors and do not necessarily
represent the official position of the Centers for Disease Control and Prevention.The Fragile X Clinical & Research Consortium was founded in 2006 and exists to improve the delivery of
clinical services to families impacted by any Fra gile X-associated Disorder and to develop a research infrastructure for advancing the development and implementation of new and improved treatments.Please contact the
National Fragile X Foundation for more information. (800-688-8765 or www.fragilex.orgquotesdbs_dbs17.pdfusesText_23[PDF] fragile x syndrome questions
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