摘要
苯丙酮尿症(phenylketonuria,PKU)是一种常染色体隐性遗传病,通过新生儿疾病筛查可以早期诊断和治疗。但资料表明即使是早期治疗的PKU患儿,仍然存在执行功能障碍、认知缺陷等心理问题以及内向型外向型的行为问题,PKU患儿的父母也易出现焦虑和其它不良情绪,患有PKU的母亲苯丙氨酸的水平对其后代的精神心理行为发育均有影响。为保证PKU 患儿的发育,提高其生活质量,建议对家长和患儿都要进行心理干预治疗。
关键词
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参考文献
[1] Enns GM,Koch R,Brumm V,et al.Jurecki suboptimal outcomes in patients with PKU treated early with diet alone:Revisiting the evidence,Molecular[J].Mol Genet Metab,2010,101(2-3):99-109.
[2] Hoeksma M,Reijngoud DJ,Pruim J,et al.Phenylketonuria:high plasma phenylalanine decreases cerebral B protein synthesis[J].Mol Genet Metab,2009,96(4):177-182.
[3] 臧家新,岳峰,刘根贤,等.饮食控制和早期干预对苯丙酮尿症重要性的研究[J].中国优生优育,2007,13(4):162-164.
[4] Nati Onal Institutes of Health Consensus Development Panel.National institutes of health consensus development conference statement,phenylketonuria:screening and management[J].Pediatrics,2001,108(4):972-982.
[5] Leuzzi V,Pansini M,Sechi E,et al.Executive function impairment in early-treated PKU subjects with normal mental development[J].J Inherit Metab Dis,2004,27(2):115-125.
[6] 李卓影,王伟,刘洋,等.早期筛查诊断治疗的45例苯丙酮尿症患儿智力发育分析[J].淮海医药,2010,28(5):382-383.
[7] Anderson P.Assessment and development of executive function (EF) during childhood[J].Child Neuropsychol,2002,8(2):71-82.
[8] Sharman R,Sullivan K,Young RM,et al.Depressive symptoms in adolescents with early and continuously treated phenylketonuria:associations with phenylalanine and tyrosine levels[J].Gene,2012,504(2):288-291.
[9] Anjema K,Rijn MV,Verkerk PH,et al.PKU:High plasma phenylalanine concentrations are associated with increased prevalence of mood swings[J].Mol Genet Metab,2011,104(3):231-234. [10] Fitzgerald B,Morgan J,Keene N,et al.An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability[J].J Intellect Disabil Res,2000,44(Pt1):53-59.
[11] Ten Hoedt AE,De Sonneville LM,Francois B,et al.High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria:a randomised,double-blind,placebo-controlled,crossover trial[J].J Inherit Metab Dis,2011,34(1):165-171.
[12] Wu W,Sheng D,Shao J,et al.Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria[J].Paediatr Child Health,2011,47(7):441-447.
[13] Wiersema JR,van der Meere JJ,Roeyers H,et al.State regulation and response inhibition in children with ADHD and children with early- and continuously treated phenylketonuria:an event-related potential comparison[J].Inherit Metab Dis,2005,28(6):831-843.
[14] Stemerdink BA,Kalverboer AF,van der Meere JJ,et al.Behaviour and school achievement in patients with early and continuously treated phenylketonuria[J].Inherit Metab Dis,2000,23(6):548-562.
[15] Weglage J,Funders B,Wilken B,et al.Psychological and social findings in adolescents with phenylketonuria[J].Eur J Pediatr,1992,151(7):522-525.
[16] Ten Hoedt AE,Maurice-Stam H,Carolien CAB,et al.Parenting a child with phenylketonuria or galactosemia:implications for health-related quality of life[J].Inherit Metab Dis,2011,34(2):391-398.
[17] 陈天,吕军,孙晓明,等.上海市新生儿 P K U筛查患儿家长意向评价[J].中国妇幼保健,2008,33 (23):4739-4741.
[18] 冯辉,徐贵菊,李霞,等.苯丙酮尿症患儿家长心理健康水平及相关因素分析[J].齐鲁护理杂志,2011,17(27):51-53.
[19] Widaman KF,Azen C.Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes:results from the international maternal PKU collaborative study[J].Pediatrics,2003,112(6 Pt 2):1537-1543.
[20] Waisbren SE,Hanley W,Levy HL,et al.Outcome at age 4 years in offspring of women with maternal phenylketonuria:the maternal PKU collaborative study[J].JAMA,2000,283(6):756-762.
[21] Antshel KM,Waisbren SE.Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression[J].Abnorm Child Psychol,2003,31(6):565-574.
[22] Koch R,Trefz F,Waisbren S.Psychosocial issues and outcomes in maternal PKU[J].Mol Genet Metab,2010,99(S):68-74.
[23] Trefz F,Maillot F,Motzfeldt K,et al.Adult phenylketonuria outcome and management[J].Mol Genet Metab,2011,104(S):26-30.
[2] Hoeksma M,Reijngoud DJ,Pruim J,et al.Phenylketonuria:high plasma phenylalanine decreases cerebral B protein synthesis[J].Mol Genet Metab,2009,96(4):177-182.
[3] 臧家新,岳峰,刘根贤,等.饮食控制和早期干预对苯丙酮尿症重要性的研究[J].中国优生优育,2007,13(4):162-164.
[4] Nati Onal Institutes of Health Consensus Development Panel.National institutes of health consensus development conference statement,phenylketonuria:screening and management[J].Pediatrics,2001,108(4):972-982.
[5] Leuzzi V,Pansini M,Sechi E,et al.Executive function impairment in early-treated PKU subjects with normal mental development[J].J Inherit Metab Dis,2004,27(2):115-125.
[6] 李卓影,王伟,刘洋,等.早期筛查诊断治疗的45例苯丙酮尿症患儿智力发育分析[J].淮海医药,2010,28(5):382-383.
[7] Anderson P.Assessment and development of executive function (EF) during childhood[J].Child Neuropsychol,2002,8(2):71-82.
[8] Sharman R,Sullivan K,Young RM,et al.Depressive symptoms in adolescents with early and continuously treated phenylketonuria:associations with phenylalanine and tyrosine levels[J].Gene,2012,504(2):288-291.
[9] Anjema K,Rijn MV,Verkerk PH,et al.PKU:High plasma phenylalanine concentrations are associated with increased prevalence of mood swings[J].Mol Genet Metab,2011,104(3):231-234. [10] Fitzgerald B,Morgan J,Keene N,et al.An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability[J].J Intellect Disabil Res,2000,44(Pt1):53-59.
[11] Ten Hoedt AE,De Sonneville LM,Francois B,et al.High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria:a randomised,double-blind,placebo-controlled,crossover trial[J].J Inherit Metab Dis,2011,34(1):165-171.
[12] Wu W,Sheng D,Shao J,et al.Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria[J].Paediatr Child Health,2011,47(7):441-447.
[13] Wiersema JR,van der Meere JJ,Roeyers H,et al.State regulation and response inhibition in children with ADHD and children with early- and continuously treated phenylketonuria:an event-related potential comparison[J].Inherit Metab Dis,2005,28(6):831-843.
[14] Stemerdink BA,Kalverboer AF,van der Meere JJ,et al.Behaviour and school achievement in patients with early and continuously treated phenylketonuria[J].Inherit Metab Dis,2000,23(6):548-562.
[15] Weglage J,Funders B,Wilken B,et al.Psychological and social findings in adolescents with phenylketonuria[J].Eur J Pediatr,1992,151(7):522-525.
[16] Ten Hoedt AE,Maurice-Stam H,Carolien CAB,et al.Parenting a child with phenylketonuria or galactosemia:implications for health-related quality of life[J].Inherit Metab Dis,2011,34(2):391-398.
[17] 陈天,吕军,孙晓明,等.上海市新生儿 P K U筛查患儿家长意向评价[J].中国妇幼保健,2008,33 (23):4739-4741.
[18] 冯辉,徐贵菊,李霞,等.苯丙酮尿症患儿家长心理健康水平及相关因素分析[J].齐鲁护理杂志,2011,17(27):51-53.
[19] Widaman KF,Azen C.Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes:results from the international maternal PKU collaborative study[J].Pediatrics,2003,112(6 Pt 2):1537-1543.
[20] Waisbren SE,Hanley W,Levy HL,et al.Outcome at age 4 years in offspring of women with maternal phenylketonuria:the maternal PKU collaborative study[J].JAMA,2000,283(6):756-762.
[21] Antshel KM,Waisbren SE.Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression[J].Abnorm Child Psychol,2003,31(6):565-574.
[22] Koch R,Trefz F,Waisbren S.Psychosocial issues and outcomes in maternal PKU[J].Mol Genet Metab,2010,99(S):68-74.
[23] Trefz F,Maillot F,Motzfeldt K,et al.Adult phenylketonuria outcome and management[J].Mol Genet Metab,2011,104(S):26-30.
基金
山东省医药卫生科技发展计划项目(2011HW030)
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