Statements (58)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:advocacy |
increased awareness campaigns
funding for research and support policy changes for support services |
| gptkbp:associated_with |
anxiety disorders
intellectual disability autism spectrum disorder hyperactivity |
| gptkbp:carrier_status |
female carriers may be asymptomatic
|
| gptkbp:caused_by |
mutation in the FMR1 gene
|
| gptkbp:clinical_trial |
ongoing for new treatments
|
| gptkbp:color |
gptkb:green
|
| gptkbp:community_impact |
financial burden
emotional stress need for special education |
| gptkbp:community_support |
online forums
local support groups parent networks |
| gptkbp:condition |
fragile X-associated tremor/ataxia syndrome
premutation carriers |
| gptkbp:demographics |
more common in males than females
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:educational_resources |
IEP (Individualized Education Program) support
specialized teaching strategies transition planning for adulthood |
| gptkbp:first_described_by |
1960s
|
| gptkbp:funding |
increased in recent years
|
| gptkbp:future_prospects |
varies by individual
others require lifelong support some achieve independence |
| gptkbp:genetic_studies |
recommended for families
FMR1 gene analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
fragile X syndrome
|
| gptkbp:inherits_from |
X-linked inheritance
|
| gptkbp:is_involved_in |
Fragile X Alliance
Fragile X Research Foundation National Fragile X Foundation |
| gptkbp:notable_case |
notable individuals with fragile X
|
| gptkbp:prevalence |
1 in 4,000 males
1 in 8,000 females |
| gptkbp:public_awareness |
gptkb:March
|
| gptkbp:research_focus |
gptkb:gene_therapy
early intervention strategies pharmacological treatments |
| gptkbp:risk_factor |
family history
premutation in the FMR1 gene |
| gptkbp:symptoms |
social anxiety
occupational therapy sensory processing issues social skills training speech therapy developmental delays speech and language difficulties |
| gptkbp:treatment |
gptkb:psychotherapy
educational support medication for symptoms |
| gptkbp:bfsParent |
gptkb:Zynerba_Pharmaceuticals
|
| gptkbp:bfsLayer |
5
|