肝醣儲積症患童氣質及主要照顧者的親職壓力與教養態度對遵醫囑性之影響

Abstract

研究目的 肝臟型肝醣儲積症的患者常有低血糖、高乳酸、高尿酸以及高血脂的情形。目前的治療是以限制醣類攝取合併生玉米粉的飲食治療為主，目的是控制血糖及預防因控制不良而出現之併發症的發生。本研究要探討的是兒童的氣質，主要照顧者的親職壓力和教養態度對這類患者遵從醫囑性的影響。 研究方法 研究是採立意取樣，於全省各醫學中心基因門診收案，從102年3月至103年2月底，共有26位肝臟型肝醣儲積症的患者及主要照顧者參與。研究工具為結構式問卷，內容包含了研究對象的基本屬性、飲食控制的相關情形、兒童的氣質量表、親職壓力量表及教養方式量表。 研究結果 我們納入了26位肝醣儲積症的患者，平均診斷年紀為1.6±1.4歲(範圍 0-6歲)，目前年紀為為12.1±8.9歲(範圍0.4-37.6歲)。在GSD Ia的G6PC基因中，G727T的突變佔60%，G327A的突變佔32.5%。患者治療後的肝功能、三酸甘油脂以及尿酸都有改善。 超過八成的患者自評為可以按時喝生玉米粉，然部分患者抱怨無法接受其味道，無法喝完足夠的量，以及因治療引起親子衝突等。患者如果能夠有好的遵醫囑性，則在膽固醇(p = 0.004)以及肝功能(p = 0.001,0.004)的疾病控制表現較佳。在未成年患者中，可以見到在身高方面的治療效果較佳(p = 0.004)。本研究中的患孩氣質在照顧者(父母長輩)心目中偏向反應閥值高，規律性低，趨避性低、適應度偏低、反應強度低及情緒本質偏負向。遵醫囑性佳的病孩的氣質尤其在反應閥值有較高的表現。至於家長教養態度，並未影響到遵醫囑性的表現。但在本研究中的家長親職壓力，明顯較一般家長高，在遵醫囑性佳的家長，親職壓力分數較低，但未達統計顯著意義。 結論 患者對服用生玉米粉的遵醫囑性仍有加強的空間。遵醫囑性佳的患者，可以有較佳的治療成果，其家長的親職壓力分數傾向較低。但未來仍需設法減低家長壓力，尤其針對不同的孩童氣質予以建議，以提升其遵醫囑性，改進治療成果。

Background Glycogen storage disease (GSD) is a rare autosomal recessive inborn error of metabolism resulting in the defect in glucose synthesis. This defect resulted in the glycogen storage in liver and muscle, and presenting with hypoglycemia, lactic academia, and hyperlipidemia in hepatic forms of GSD. Current treatment is carbohydrate restriction and utilization of corn starch. The goal is to prevent hypoglycemia. In this study, we explore if children characters, parental attitude, and parental stress will affect patients compliance. Material and method Patients diagnosed with hepatic form of GSD were enrolled into this study. Questionnaires to explore patients and parents’ characters, parental raising attitude, and parental stress were used. Medical charts for the patients’ treatment outcome and diagnosis information were reviewed and collected for analysis. Results Totally 26 GSD patients were enrolled into this study. The mean age of diagnosis of was 1.6±1.4 years (range 0-6 years) and current age was 12.1±8.9 years (range 0.4-37.6). In GSD Ia patients, 60% alleles are G727T; 32.5% alleles are G327A. After treatment initiation, their liver function tests, triglycerides and uric acid levels could be decreased. More than 80% of patients regarded themselves as having good compliance, however, some complained about bad odor, drink inadequate amount, and causing conflict to parent-child relationship. For patients with good compliance, they could have less cholesterol levels (p = 0.004) and liver function tests (p = 0.001,0.004). For patients who were less than 18 years old, better compliance correlated with better body height (p = 0.004). Children in this study tended to have high emotion response threshold, low degree of regularity, no avoidance, low adaptive ability, low emotion response, and easy to have bad mood. For patients with good compliance, they tended to have even higher emotion response threshold. Parents’ rearing attitudes didn’t affect compliance. Parents in this study tend to have higher parental stress but parents of good compliance had less stress. Conclusion Patient compliance to corn starch treatment needs further improve. Good compliance correlated with better treatment outcomes and less parental stress. Methods to rear those children especially suitable for their specific temperament may help to decrease parental stress and further improve the compliance.