| Abstract: | 結節性硬化症(Tuberous Sclerosis Complex, TSC)患者除了身體多處器官的腫瘤造成顯著的醫療負擔外，90%以上的患者也會經歷情緒、行為、神經心理障礙及家庭壓力等困擾亟需重視，統稱為結節性硬化症相關神經精神障礙(TSC-associated neuropsychiatric Disorders, TAND)。本研究欲了解台灣TSC患者之TAND困擾情形，並針對尚無客觀測驗研究之學業層面，以閱讀能力為指標深入探討。本研究將現有的TAND檢核表以四點量表呈現，再配合標準化量表驗證其臨床實用價值；另以學習障礙篩檢測驗評估患者的閱讀能力。研究結果顯示有94.7%的患者曾經有一項以上的TAND困擾：行為層面被報告的比例最高(92.1%)，其次為心裡社會層面(78.9%)，精神層面相對較少(31.6%)。分組分析TAND顯示：無癲癇史或癲癇控制佳的的患者較少經歷TAND困擾；18歲以下患者比成人患者報告較多「暴怒」情緒輕度困擾；而女性患者比男性患者報告較多的輕度憂鬱情緒困擾。臨床應用上，四點量表式的TAND檢核表可以較精確的評估出患者的困擾程度差異。閱讀能力方面，智能是影響患者閱讀測驗表現的主要因素，僅有27%的患者符合臨床定義之閱讀障礙。另有一重要發現，智力正常到輕度智能障礙的患者都共同有訊息處理速度慢的神經心理障礙特徵。整體而言，患者的TAND困擾受多重因素影響使得個體差異大且有程度上的差異，而主觀報告可能會忽略或錯估患者的實際需求；學業層面主觀報告高比例的學習困難，多數可能來自於智能障礙未獲得適當協助以及處理速度慢導致的學習效率不佳，而非特殊學習障礙。我們強烈建議對TAND進行精確的定期評估，以確定TSC患者當前的醫療需求，並且轉介專業人員進行詳細評估及治療。
Tuberous Sclerosis Complex (TSC) patients are burdened with significant medical condition, and more than 90% of them suffer from TSC-associated neuropsychiatric Disorders (TAND), such as emotional disorders, behavioral disorders, neuropsychological disorders and family stress, etc. This study aimed to evaluate the influence of the TAND on TSC patients in Taiwan, and also used the reading ability as an indicator to make a further exploration at academic level of TAND which has not been valued in past studies. In this study, a four-point scale TAND checklist was used to collect refined data, and its clinical practical value was verified with the standardized scale. Furthermore, the standard learning disability screening test was applied to examine the reading ability of TSC patients. The results of the study showed that 94.7% of patients had more than one TAND. The behavioral level was reported the highest (92.1%), followed by psychosocial level (78.9%). On the other hand, psychiatric level was relatively small (31.6%). Group analysis revealed that patients without history of epilepsy or with better seizure control experienced less TAND; patients younger than 18 years reported more "temper tantrums" mood than adults in mild degree; female patients had more mild depression than male patients. In clinical applications, the four-point TAND checklist is able to accurately estimate the TAND distress degree. In terms of reading ability, intelligence is the main factor that affects the performance of reading tests. Only 27% of patients met the clinically defined dyslexia. In addition, there is an important finding that patients with normal intelligence to mild mental retardation share the same neuropsychological disorder characterized by slow processing speed. Overall, the individual differences play an important role on the influence of TAND. The subjective reports may underestimate or misestimate patients’ real needs. The reasons that TSC child is reported of learning disorder may come from the unawareness of intelligent disability and poor learning efficiency caused by slow processing speed. Therefore, we strongly suggest a refined regular follow-up of TAND to identify the TSC patients’ current medical needs, and refer them to professionals for detailed assessment and treatment. |
