prader_willi_syndrome

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prader_willi_syndrome [2024/05/20 09:20] oculomanprader_willi_syndrome [2024/05/20 09:22] (current) oculoman
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     * Excessive eating and gradual development of morbid obesity     * Excessive eating and gradual development of morbid obesity
     * Delayed Motor milestones and language development      * Delayed Motor milestones and language development 
-    * Cognitive impairment.+    * Cognitive impairment
  
 ====Eye Findings==== ====Eye Findings====
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   * nystagmus   * nystagmus
   * congenital ectropion uvea   * congenital ectropion uvea
-  * There is also an overlap between Prader-Willi Syndrome and oculocutaneous albinism that is attributed to the deletion of the OCA2 gene found in the PWS critical region.+  * Signs of oculocutaneous albinism can occur if deletion of the OCA2 gene which is found in the PWS critical region
 ====Other Findings==== ====Other Findings====
   * Short stature and growth hormone deficiency   * Short stature and growth hormone deficiency
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   * Epilepsy   * Epilepsy
   * Scoliosis   * Scoliosis
- +  * Behavioral problems and learning difficulties similar to autism spectrum disorder
-Behavioral problems and learning difficulties similar to those found in autism spectrum disorder are commonly seen in Prader-Willi syndrome[18]. Patients can also exhibit rectal gouging and skin-picking behavior that may respond to N-acetylcysteine treatment[19]. Mood disorders and psychotic states among other psychiatric symptoms and disorders have been reported among adults[20]. Cognitive impairment is also commonly associated with Prader-Willi syndrome[21]. Abnormal food-seeking behaviors among Prader-Willi syndrome patients include stealing food, eating garbage, and eating frozen food. Decreased vomiting ability and increased pain tolerance have been associated with Prader-Willi syndrome[22].+
   * Scoliosis   * Scoliosis
 ====Etiology==== ====Etiology====
  • prader_willi_syndrome.txt
  • Last modified: 2024/05/20 09:22
  • by oculoman