Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

1.4K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.4K
Pedigree Analysis01:35

Pedigree Analysis

90.1K
Overview
90.1K
Pleiotropy01:33

Pleiotropy

43.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.6K
Social Anxiety Disorder01:28

Social Anxiety Disorder

601
Social anxiety disorder, also known as social phobia, is characterized by an intense fear of social situations where one might face humiliation, rejection, embarrassment, or negative evaluation. This disorder leads individuals to avoid activities like casual conversations, public speaking, or seemingly simple tasks such as eating, signing documents, or swimming, in public settings. Its impact extends beyond discomfort, often significantly interfering with daily functioning and quality of life.
601
Sex-linked Disorders01:43

Sex-linked Disorders

109.6K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
109.6K
Genetic Lingo01:11

Genetic Lingo

116.0K
Overview
116.0K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

On-site exposure to clinical epilepsy practice for experimental scientists engaged in epilepsy research: A pilot study by the ILAE commission on neurobiology.

Epilepsia open·2026
Same author

Viewpoint: Decline in Speech and Language Skills May Signal Childhood Dementia.

American journal of speech-language pathology·2026
Same author

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

medRxiv : the preprint server for health sciences·2026
Same author

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Epilepsia open·2026
Same author

Follow-up of children born very preterm: the need for evidence-based frameworks to drive best practice and standardised care.

Archives of disease in childhood. Fetal and neonatal edition·2026
Same author

Long-Term Speech Outcomes in Moderate-to-Severe Childhood Speech Sound Disorder: A Systematic Review.

International journal of language & communication disorders·2026
Same journal

Hammersmith Infant Neurological Examination global scores for predicting neurodevelopmental outcomes after 2 years of age: A systematic review and meta-analysis.

Developmental medicine and child neurology·2026
Same journal

Seizure worsening and sodium channel blockers in HCN1-related epilepsies: A case series.

Developmental medicine and child neurology·2026
Same journal

What is the impact of childhood-onset disability research - and what should it be?

Developmental medicine and child neurology·2026
Same journal

Sleep disturbances in children with cerebral palsy, their siblings, and parents: A qualitative descriptive study.

Developmental medicine and child neurology·2026
Same journal

Reframing early socio-emotional risk in infants at high risk of cerebral palsy beyond motor outcomes.

Developmental medicine and child neurology·2026
Same journal

Mitochondrial respiration and characteristics of skeletal muscles in children with cerebral palsy.

Developmental medicine and child neurology·2026
関連記事をすべて見る

関連する実験動画

Updated: Feb 24, 2026

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
11:46

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer

Published on: May 26, 2014

23.7K

発達性吃音症における一般的および複雑な表現型の特徴

Sarah E Horton1,2, Daisy A Shepherd1,3, Stephanie Siemers1

  • 1Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Developmental medicine and child neurology
|February 23, 2026
PubMed
まとめ
この要約は機械生成です。

吃音のある人のほとんどは一般的な表現型を持つが、10％はより重度の症状と併存疾患を伴う複雑な表現型を持つ。どちらのタイプも多職種連携によるサポートが有益である。

キーワード:
発達性吃音症表現型併存疾患多職種連携ケア神経発達障害

さらに関連する動画

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.4K
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.7K

関連する実験動画

Last Updated: Feb 24, 2026

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
11:46

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer

Published on: May 26, 2014

23.7K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.4K
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.7K

科学分野:

  • 神経科学
  • 遺伝学
  • 言語聴覚療法

背景:

  • 発達性吃音症は複雑な言語障害である。
  • 表現型のスペクトルを理解することは、標的を絞った介入のために重要である。

研究 の 目的:

  • 発達性吃音症の表現型の特徴を明確にすること。
  • 吃音人口内の異なるサブグループを特定すること。

主な方法:

  • 現在または解決済みの吃音のある成人327人からの調査データに対する潜在クラス分析。
  • 吃音歴、家族歴、併存する健康状態、および非言語知能の評価。

主要な成果:

  • 表現型は、一般的な表現型（90％）と複雑な表現型（10％）の2つが特定された。
  • 複雑な表現型群は、より重度の吃音、より大きな負の影響、より高い不安率、低い非言語知能、および神経発達障害を示した。
  • 一般的な併存疾患には、睡眠、聴覚、視覚、免疫、およびメンタルヘルスの問題が含まれた。

結論:

  • 表現型分析により、発達性吃音症の一般的形態と複雑形態が明らかになった。
  • 複雑な表現型の個人は、関連する状態のために専門的な多職種連携サポートを必要とする。