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Fragile X Syndrome
SLD 4
| Term | Definition |
|---|---|
| Cause of Fragile X | abnormal x chromosome w/ pinched-off portion at bottom of 'q' arm (gene FMR1, or the fragile X) |
| The FMR1 gene of fragile X | contains repetitive gene sequence of tri-nucleotide, CGG. Repeated 6-50 times in most non-affected people--> normal dev. Repeated 50-200 times in fragile X carriers-->premutations with no symptoms. Repeated 200+-->full mutation, symptoms expressed |
| Transmission of fragile X | carrier females can pass FMR1 mutation to offspring of either sex-->can expand to full mutation (in males all show symptoms, but only 1/2 females show symptoms with full mutation); carrier males can only pass FMR1 mutation to daughters, does not expand |
| Physical features of fragile X | long, narrow face; prominent ears; machro-orchidism; loose connective tissue (hyperextended fingers, flat feet, soft skin); chronic ear infec. as a C; 20% C seizures |
| Prevalence of fragile X | 1 in 4000 males, 1 in 8000 females, 1 in 259 females may be carriers, occurs in all racial and ethnic groups |
| Cognitive function of fragile X | Dependent on gender and genetic status. Psychiatric vulnerabilities include: emotional lability; perseverative and tangential speech; and strained, unusual, or odd thinking |
| Strengths of fragile X | verbal skills, repertoire of acquired knowledge, expressive and receptive vocab, verbal long-term memory, adaptive living skills/self-help |
| Weaknesses of fragile X | short-term memory incl. auditory-verbal and visual-perceptual; sustaining attention, effort; sequential processing; visual-spatial and organizational tasks; shifting problem solving strategies; integrating information |
| Linguistic function of fragile X: Speech | uneven, unpredictable rates of speech, whole and part word repetition, sound substitutions and omissions, cluttering |
| Linguistic function of fragile X: Content | delays in receptive and expressive vocabularies |
| Linguistic function of fragile X: Form | delays in syntactic development |
| Linguistic function of fragile X: Pragmatics | tangential, overuse highly routinized phrases and jargon, tend to perseverate word, phrase, or topic |
| Linguistic function of fragile X: Additional | Some females exhibit selective mutism, some males mumble and self-talk |
| Maladaptive behavioral symptoms of fragile X (name a few) | Gaze avoidance, attention deficits, hyperactivity, shyness, oscial isolation, social anxiety, perseveration, hyper-arousal, stereotyped behaviors, tactile defensiveness, self injury, oddities in thinking, tangential thinking, unrealistic self-view |
| Intervention strategies | Emphasize simultaneous processing and verbal long-term memory tasks; draw on acquired vocab; hands-on tasks; reduce auditory and visual distractions; predictable routine; relaxation techniques |
| Relationship to autism | autism is a behavioral condition that can be a symptom of FXS. 15-33% of people with FXS have autism as well. FXS is one cause of autism. |
Created by:
100000299709410
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