Расстройства аутистического спектра в первые годы жизни. Исследования, оценка и лечение

Резюме

За более чем 75 лет, прошедших со времени классического описания Каннером детского аутизма, наша концепция этого расстройства претерпела заметные изменения. Первые десятилетия работы по изучению этого заболевания сопровождались путаницей относительно того, как оно соотносится с другими заболеваниями (в частности, шизофренией), а также некоторыми примечательными ошибочными представлениями об этиологии, социальных факторах, когнитивных способностях и подходах к лечению. В 1970-е гг. появились доказательства того, что аутизм является уникальным расстройством, отличающимся во многих отношениях от других. У него внушительная генетическая составляющая, и он лучше всего поддается структурированному лечению, призванному помочь ребенку компенсировать препятствия, которые синдром создает для обучения и развития. Особенно важным было официальное признание расстройства как «раннего детского аутизма» в 1980 г. в DSM-III, и с тех пор объем литературы по аутизму значительно увеличился.

В то же время некоторые споры продолжаются и по сей день. Первое определение аутизма в DSM-III было сосредоточено на «раннем детском» аутизме – то есть на его наиболее классической форме, поскольку он, предположительно проявлялся в младенчестве. Вопрос развития был решен путем включения «остаточной» категории для тех, кто некогда соответствовал критериям ранней детской формы расстройства. Такой подход был признан неудовлетворительным, и поэтому в следующем пересмотренном издании была принята четкая ориентация. Совмещение DSM-IV и МКБ-10 оставалось золотым стандартом на протяжении нескольких десятилетий. Как отмечалось выше, с появлением DSM-5 маятник (несколько парадоксально, учитывая изменение названия на «расстройства аутистического спектра») качнулся назад, чтобы больше сосредоточиться на прототипических случаях «аутизма Каннера». Как мы уже отмечали выше, случаи с более высокими когнитивными функциями теперь с большей вероятностью исключаются из диагноза, хотя, опять же парадоксально, тем, кому диагноз был поставлен до DSM-5, позволено его сохранить!

Переход в DSM-5 к расстройствам аутистического спектра отражает интерес и растущий объем исследований в области аутистического спектра. Это имело свои истоки в признании атипичных или «не определенных иным образом» форм расстройства. Со временем растущий объем исследований говорит о том, что аутизм действительно незаметно переходит в норму. Эти данные во многом согласуются со сложностью генетической природы этого состояния.

Как мы уже отмечали в этой главе, для младенцев и детей раннего возраста растущая осведомленность об этом расстройстве и предоставление новых методов лечения, основанных на фактических данных, представляют собой важные возможности для оптимизации обучения и улучшения прогноза. В то же время серьезными препятствиями выступают отсутствие биомаркеров заболевания и сравнительно высокая вариативность в эффективности инструментов скрининга. Как отмечается в других главах настоящего сборника, в настоящее время существует целый ряд новых методологических подходов, направленных на изучение аутизма в его раннем проявлении. Эти исследования перейдут к еще более ранним стадиям развития, например, к поиску отличий во внутриутробном состоянии. Хотя предстоит еще проделать большую работу, очевидно, что было достигнуто немало успехов.

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