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"name": "Специфические расстройства развития учебных навыков",
"icd_name": "Специфические расстройства развития учебных навыков",
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"lead": "Нарушение здоровья, относящееся к группе нарушения психологического развития",
"description": "Специфические расстройства развития школьных навыков (СРРШН) – нарушения формирования навыков чтения, письма, счета, связанные с трудностями обработки когнитивной информации.",
"etiology": "<p>Выделяют следующие вероятные причины развития СРРШН: </p>\r\n<ul>\r\n<li>Легкие органические поражения центральной нервной системы. </li>\r\n<li>Снижение когнитивных способностей - недостаточное умение анализировать, обобщать информацию, дефицит словарного запаса, визуальной памяти. </li>\r\n<li>Наследственная отягощенность. </li>\r\n<li>Психолого-педагогическая запущенность. </li>\r\n<li>Социальная запущенность - неблагоприятные условия проживания, плохое питание в детском возрасте. </li>\r\n<li>Языковой барьер. Проблемы в освоении чтения, переписывания, экспрессивного письма, пересказа, счета возникают у школьников, обучающихся не на родном языке. </li>\r\n</ul>\r\n<p> </p>",
"pathogenesis": "<p> </p>\r\n<p> </p>\r\n<p>Причиной расстройств развития школьных навыков является дисфункция определенных отделов коры головного мозга. Как следствие, затрудняется восприятие и обработка когнитивной (познавательной) информации. Нарушения речи, письма, чтения могут быть связаны с перемещением языковой латерализации (процесс, посредством которого различные психические функции связываются с левым либо правым полушариями головного мозга.) в менее дифференцированное в отношении данной функции полушарие. </p>\r\n<p>Вторичные расстройства появляются после рождения и провоцируются органическими поражениями левого полушария, области мозолистого тела (блокируется передача зрительной информации из правого полушария в левое). </p>\r\n<p> </p>",
"diagnostics": "<p>Диагностика включает: </p>\r\n<ul>\r\n<li>Консультацию психиатра. Критериями заболевания являются: задержка, отклонение развития речи в дошкольном возрасте; невнимательность, гиперактивность, эмоциональные и поведенческие нарушения; несформированность одного или нескольких учебных навыков при установленном нормальном интеллектуальном развитии, отсутствии тяжелых неврологических патологий и травм; отсутствие эффекта при усилении педагогической поддержки. </li>\r\n<li>Патопсихологическое ткестирования, направленные на исследование уровня интеллекта, памяти, внимания, мышления. </li>\r\n<li>Нейропсихологическое исследование. Проверяется умение выполнять графические пробы, выявляются нарушения моторной, сенсорной и номинативной функции речи. Во время чтения определяются пропуски, замены букв, искажения слов, перестановка частей слов, непоследовательность слов в предложениях. При нарушениях письма – ошибки копирования текста, написания под диктовку: перепутано расположение букв, имеются орфографические ошибки. Решение арифметических задач, простых примеров затруднено, счет с ошибками. </li>\r\n<li>Логопедическую диагностику. Логопед уточняет речевой анамнез, оценивает сформированность речи, навыки чтения, письма. </li>\r\n</ul>",
"treatment": "<p>Лечение направлено на коррекцию нарушенных навыков. Дополнительно проводятся мероприятия, нацеленные на устранение эмоциональных и поведенческих расстройств. Используются следующие методы: </p>\r\n<p>Коррекция обучением. Для ребенка с СРРШН к основной программе обучения создается дополнительная, ориентированная на формирование определенного навыка. </p>\r\n<p>Нейропсихологическая коррекция. Используется интегративный метод, направленный на усвоение фонетических сочетаний, пространственной структуры слов и чисел. </p>\r\n<p>Коррекция нарушений письменной речи. Цель упражнений и игр – развитие грамматически правильной устной речи, понимания звуко-буквенных связей, тренировка навыков вербального и зрительного анализа, синтеза, коррекция навыков чтения. Отрабатывается графо-моторная координация, умение анализировать грамматический строй речи, синтаксическое построение предложения. </p>\r\n<p>Детская психотерапия. Индивидуальные сеансы и групповые встречи проводятся с целью коррекции эмоционального состояния, выработки навыков социального взаимодействия. Техники направленны на осознавание и проработку негативных эмоций (депрессии, гнева, тревожности). </p>\r\n<p>Фармакотерапия. Используется при выраженных поведенческих, аффективных нарушениях. При депрессивной, тревожно-депрессивной симптоматике назначаются антидепрессанты группы ингибиторов обратного захвата серотонина. Тревожный компонент дополнительно корректируется транквилизаторами. При гиперактивности, возбуждении используются психостимулирующие препараты. </p>",
"prevention": "<p>Профилактика СРРШН заключается во внимательном отношении родителей к школьной успеваемости, замечаниям педагогов, создании комфортных условий для выполнения домашней работы, уважительном отношении к ребенку. </p>\r\n<p> </p>",
"clinical_picture": "<p>При дислексии затруднено узнавание слов, понимание предложений. Дети с трудом различают отдельные буквы, не всегда могут определить начало и конец предложения. Нарушено запоминание названий букв, соответствующих звуков. При чтении ребенок переставляет буквы в слове, слова в предложении. Затруднено воспроизведение слов по буквам. Постепенно чтение формируется, но не имеет интонации. Озвученный текст остается не понятым, оперирование полученной информацией невозможно. </p>\r\n<p>Расстройство спеллингования чаще всего проявляется нарушением письма. Дети не способны произносить слова по слогам, писать без ошибок. Определяется нарушения чередования букв, трудности в разделении слова на приставку, суффикс, окончание. Навык чтения, понимание прочитанного в норме. Имеются затруднения в выражении мыслей, построении монолога. Письменная и устная речь с большим количеством грамматических, смысловых ошибок, но фонетически развита нормально. </p>\r\n<p>При нарушении арифметических навыков определяются трудности овладения арифметическими операциями, прямым и обратным счетом. Ребенок плохо запоминает последовательность арифметических операций, не понимает цифровые символы. Нарушена пространственная организация вычислений, затруднено выстраивание чисел по порядку. </p>",
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},
"code": "G12",
"name": "Спинальная мышечная атрофия и родственные синдромы",
"icd_name": "Спинальная мышечная атрофия и родственные синдромы",
"gender": 0,
"age_min": 0,
"age_max": 100,
"cause": [
3,
0
],
"periodicity": 1,
"slug": "g12_spinalnaya_myshechnaya_atrofiya_i_rodstvennye_sindromy",
"lead": "Нарушение здоровья, относящееся к группе системные атрофии, поражающие преимущественно центральную нервную систему",
"description": "Термин “спинальная мышечная атрофия” (СМА), или “спинальная амиотрофия”, является широким понятием, объединяющим группу заболеваний, сопровождающихся дегенерацией двигательных нейронов в спинном мозге и (или) стволе головного мозга и характеризующихся преимущественно аутосомно-рецессивным типом наследования. ",
"etiology": "<p>В большинство случаев СМА обусловлена дефицитом протеина мотонейронов, именуемым SMN (протеин выживаемости мотонейронов) </p>\r\n<p>Этот протеин, как следует из его названия, необходим для нормального функционирования мотонейронов. </p>\r\n<p>SMN – связанная СМА обычно подразделяется на 3 категории. Тип 1 — наиболее тяжелый, с самым ранним началом, а тип 3 — наименее тяжелый, с наиболее поздним возрастом начала. Некоторые специалисты выделяют еще тип 4 для обозначения умеренной или мягкой СМА с дебютом во взрослом возрасте </p>\r\n<p>Все эти типы связаны с генетическими поломками (мутациями) на хромосоме 5, что влияет на количество синтезируемого SMN – протеина. Более высокие уровни протеина снижают тяжесть СМА. </p>\r\n<p>Существуют также формы СМА, не связанные с протеином SMN и не являющиеся результатом мутаций на хромосоме 5. </p>",
"pathogenesis": "<p>СМА вызвана мутацией в гене SMN1, который в норме производит белок SMN.</p>\r\n<p>Из-за мутации гена, у людей с СМА производится меньшее количество белка SMN, что приводит к потере моторных нейронов.</p>",
"diagnostics": "<p>При подозрении — консультация невролога и генетика. </p>\r\n<p>Биохимия крови: креатинкиназа — в норме при СМА тип I, в норме или незначительно повышена при других типах. </p>\r\n<p>Генетическое обследование: пренатально или постнатально. Тест ДНК путем определения выпадения гена SMN1. </p>\r\n<p>Электронейромиография — показывает снижение нервных импульсов, помогает дифференцировать СМА от других нервно-мышечных болезней. Сенсорная нервная проводимость обычно нормальная. </p>\r\n<p>Биопсия мышц — гистологические признаки атрофии мышечных волокон, помогает дифференцировать СМА от других нервно-мышечных болезней. </p>",
"treatment": "<p>Специального лечения пока не разработано. </p>\r\n<p>Необходимы мультипрофессиональный подход и паллиативная помощь для улучшения качества жизни. </p>\r\n<ol>\r\n<li>Помощь в передвижении и самообслуживании. </li>\r\n<li>Фиксация корпуса и конечностей (корсеты, туторы и др.). </li>\r\n<li>Физиотерапия, эрготерапия (восстановлением утраченных двигательных навыков), физическая терапия и специальные сиденья могут уменьшить развитие контрактур суставов и сколиоза. </li>\r\n<li>Дыхательные упражнения. </li>\r\n<li>Респираторная поддержка, в том числе ИВЛ (неинвазивная через маску или инвазивная через трахеостому), может понадобиться на дому при прогрессировании болезни. </li>\r\n<li>Кормление через гастростому необходимо при прогрессировании проблем с глотанием. </li>\r\n</ol>",
"prevention": "<p>Возможна только пассивная профилактика — консультирование родителей с риском СМА о возможных последствиях и пренатальная ДНК-диагностика во время беременности через биопсию ворсин хориона для принятия решения о рождении или прерывании беременности. </p>",
"clinical_picture": "<p>Наиболее тяжёлой формой является I тип спинальной мышечной атрофии (синдром Верднига-Гоффмана), манифестирующий в раннем детстве (в первые 6 месяцев). Характерен синдром «вялого ребёнка» (слабый крик, сниженная двигательная активность, вялое сосание, потеря массы тела, сниженные глотательный, сосательный и кашлевой рефлексы). Такие дети неспособны удерживать головку, переворачиваться и сидеть, отстают в моторном развитии (грубая задержка). Могут развиваться деформации суставов и конечностей, контрактуры, дыхательные и бульбарные нарушения (расстройство глотания (дисфагия), нарушение артикуляции (дизартрия) и звучности речи (дисфония). Средняя продолжительность жизни таких детей – 2 года. Причиной смерти, как правило, становится тяжёлая дыхательная недостаточность или развитие пневмонии. </p>\r\n<p>Для II типа спинальной амиотрофии характерны более поздняя манифестация (6-18 месяцев) и хронически прогрессирующее течение. У таких детей наблюдается отставание в моторном развитии, тремор пальцев, прогрессирование слабости кашлевого рефлекса, поверхностного диафрагмального дыхания и межрёберных мышц. В начале дети с данной формой заболевания могут ползать, сидеть без поддержки, а некоторые и стоять при поддержке, но эти способности утрачиваются по мере роста и увеличения массы тела. Формируются скелетные и мышечные деформации (в том числе сколиоз, деформации грудной клетки и псевдогипертрофия икроножной мышцы), контрактуры, а также возникают нарушения дыхания (вплоть до развития дыхательной недостаточности). </p>\r\n<p>Наиболее лёгкое течение из детских форм характерно для III типа спинальной мышечной атрофии (синдрома Кугельберга-Веландера). Первые проявления, как правило, обнаруживаются у детей после 1,5 лет и характеризуются сложностями с комплексными двигательными навыками (бег, подъём по ступенькам и т.п.). Симптоматика прогрессирует медленно, нарушения глотания и жевания развиваются значительно позже. </p>\r\n<p>Взрослая форма (тип IV) имеет мягкое течение, при котором наиболее часто первыми поражаются мышцы плечевого пояса. </p>",
"image": null,
"image_alt": null,
"standard_type": 3,
"danger": 1,
"published": 2,
"parent": null,
"block_rubric": 65,
"standards": [
4855,
5382
]
}
]
}
