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List of sites w/information about the intersection of ADHD, clumsiness, sensory integraton, and/or autism spectrum disorders
Updated about 1 hour ago
Created on 2008-10-11
Category: Health & Wellness
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The Health & Social Aspects of Fragile X Syndrome
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A verbal/performance discrepancy manifests as relative strengths in vocabulary, and speech and language. Special needs are often present for numeracy and tasks requiring good visuo-spatial skills. Simultaneous processing of information is stronger than sequential processing (taking data one bit at a time) and has implications for remedial education programmes. Relative strengths are also seen with verbally based factual material with weaknesses in abstract reasoning and symbolic language. The trajectory of intellectual development seems to slow towards puberty thereby increasing the discrepancy between cognitive functioning of people with fragile X and their unaffected peers. This is probably due tothe greater emphasis of cognitive tests on abstract concepts and reasoning and sequential information processing skills - areas of difficulty for fragile X individuals -
In fragile X, social anxiety isfar more frequent than social indifference. Crowded environments like parties, supermarkets andpublic transport may cause excessive distress while one-to-one settings with ample space are preferred. A generalised sensory defensiveness manifests as an aversion (not indifference) to eye contact. Auditory defensiveness can present as hyperacusis. Tactile, olfactory and gustatory sensitivities have also been reported. Self-injury is common in the form of biting the base of the thumb, usually in response to anxiety or frustration. Imitative and symbolic play is usuallydelayed but does develop. Individuals often demonstrate stereotyped repetitive behaviours such as hand flapping and an insistence on routine with a dislike of variety - 2 more annotations...
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Fragile-X Syndrome
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Affected females without intellectual disability may
have specific deficits in the areas of attention, visuo-spatial
skills, shyness and social anxiety, and executive functions. The
less serious effects in females may be due to the fact that they
have two X chromosomes, of which only one is active in each cell.
This increases the chances a normal FMR-1 gene owing to random
X chromosome inactivation. -
Associated psychiatric disorders
Attentional deficits are more common in fragile-X syndrome than
in other causes of intellectual disability. Inattentiveness, restlessness
and fidgetiness tend to persist over time. Premutation carriers
have increased social anxiety and mood lability. It may be difficult
to distinguish delusions and hallucinations from the usual fragile-X
behaviour, which may include perseverative mumbling and stereotypies.
In female carriers, schizotypal features are more common in mildly
affected people and fragile-X positive heterozygotes, and depression
in fragile-X negative heterozygotes. The occurrence of comorbid
bipolar affective disorder in other family members has been described.
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DDHealthInfo.org
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- Large head
- Large, or prominent ears often with cupping of pinnae
- Long face
- Macro-orchidism (increased testicular volume - usually not seen until puberty)
- Hypotonia and joint hypermobility
- Inattention and hyperactivity
- Language delays and repetitive or perseverative speech
- Autistic features (poor eye contact, hand flapping, hand biting)
- Difficulty in adapting to change
- Mental retardation
- Developmental delays, including delayed motor milestones in early childhood
- Anxiety and mood instability sometimes leading to intermittent outbursts
Characteristic Features
Note: These features are more distinctive and recognizable in males, and often do not appear until late childhood or early adolescence.
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ADHD and ADD
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While girls overall are somewhat more likely to have ADD rather than ADHD, there is a high percentage of girls with fragile X syndrome who have hyperactivity, along with inattention.
Disruptiveness and hyperactivity tend to decrease with age in persons with fragile X syndrome, but attention and concentration problems may persist. Low frustration tolerance often accompanies the symptoms of ADHD.
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Researchers Call For Fragile X Testing Throughout The Lifespan
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The full mutation of the FMR1 gene causes fragile X syndrome, for which there is no cure, but targeted treatments that may reverse this disorder are currently being tested at the MIND Institute. Without a normal copy of the fragile X gene, a vital protein is not made and the result is the onset of characteristic mental disorders, which can range from learning disabilities to severe cognitive or intellectual disabilities, such as autism.
In fact, 30 percent of boys with the fragile X mutation are diagnosed with autism. Fragile X syndrome is the most commonly known single-gene cause of autism, responsible for between 2 and 6 percent of autism cases.
In girls, the full mutation often manifests as shyness, math learning disability and social anxiety.
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