کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8816119 | 1608286 | 2018 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
El reto del diagnóstico comórbido en psiquiatrÃa infantojuvenil
ترجمه فارسی عنوان
چالش تشخیصی در روانپزشکی کودکان و نوجوانان مبارزه می کند
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کلمات کلیدی
attention-deficit hyperactivity disorder - اختلال بیش فعالی کمبود توجهUrea cycle disorders - اختلالات چرخه اورهErrores innatos del metabolismo - اشتباهات متولد شده متابولیسمADHD - بیشفعالیTDAH - تنهامInborn errors of metabolism - خطاهای متولد شده متابولیسمOrnithine transcarbamylase deficiency - کمبود اورنیتین ترانس کربامیلاز
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
روانپزشکی و بهداشت روانی
چکیده انگلیسی
The case is presented of a patient with a changing behavioural phenotype and a rare biotype, who was diagnosed with attention deficit hyperactivity disorder (ADHD) from an early age, with partial response to the prescribed treatment (extended-release methylphenidate, risperidone, sertraline). After an aggressive episode at home, he was admitted to the child and adolescent hospitalisation unit. A brain NMR scan and a metabolic study revealed anomalies compatible with a deficiency of ornithine transcarbamylase (OTC), an enzyme which forms part of the urea cycle. The study discusses the different diagnoses that were proposed given the syndrome of the patient, both from an organic approach, as well as and from the perspective of psychiatric comorbidity. OTC deficiency has a low incidence -one in every 15,000 newborn babies-, similar to that of phenylketonuria (which was included years ago in the newborn screening program in Spain). This is a predominantly hereditary disease (X-linked transmission), but with several described cases of de novo mutations or deletions. Complete OTC deficiency shows its symptoms in the first years of life, whereas a partial deficiency could start during late childhood or even in adolescence, with unspecific neuropsychiatric or behavioural symptoms. A clear pattern has not been established.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: PsiquiatrÃa Biológica - Volume 25, Issue 1, JanuaryâApril 2018, Pages 32-35
Journal: PsiquiatrÃa Biológica - Volume 25, Issue 1, JanuaryâApril 2018, Pages 32-35
نویسندگان
Celia González Soria, Soraya Geijo Uribe, Beatriz Mongil López, Mercedes Vaquero Casado, Laila Al Chaal Marcos,