スティックラー症候群と関連したロビンシーケンスの子供の認知および行動的特徴:ケースシリーズ
Juliana Garcia Martins1, Pâmella de Oliveira Ladeia2, Roseli Maria Zechi-Ceide1
1Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, SP, Brazil.
まとめ
ロビンシーケンスとスティックラー症候群の子供は,注意欠陥/多動性障害 (ADHD) の症状や視覚的注意欠陥を含む認知および行動上の問題をしばしば抱えています. 睡眠時無呼吸の評価は 注意欠陥や学問的な課題に対処するために重要です
科学分野:
- 小児神経学
- 遺伝学
- 発達心理学
背景:
- ロビン・シーケンスとスティックラー症候群は 稀な遺伝疾患です
- 早期の介入には 認知や行動に与える影響を 理解することが重要です
研究 の 目的:
- ステイクラー症候群に関連するロビンシーケンスを持つ子供の認知と行動のプロフィールを特徴づける.
- この疾患とADHDのような 神経発達障害の 関連性を特定するためです
主な方法:
- 5人の子供についてのケースシリーズです.
- 作業記憶,注意力,実行機能に焦点を当てた 認知的評価
- 注意欠陥/多動性障害 (ADHD) と学習障害に対する行動評価
主要な成果:
- ほとんどの子供は平均的な知能と 作業記憶を示しました
- 視覚的注意力障害が一般的でした.
- 4人の子供はADHDの症状を示し,1人はADHDと特定の学習障害と診断されました.
- 妨害性睡眠時無呼吸症は1つのケースで観察され,注意欠陥と関連している可能性がある.
結論:
- ロビンシーケンスとスティックラー症候群の子供は 総合的な多学科的なフォローアップが必要です
- 睡眠に関する呼吸器の評価は 注意欠陥や学問的な問題を 診断し管理するために不可欠です
- 認知や行動上の課題を 早期に特定することで 結果が改善できます
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