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Reduced production of gestures

MedGen UID:
1841540
Concept ID:
C5826844
Finding
HPO: HP:4000081

Definition

Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes. [from HPO]

Conditions with this feature

Intellectual developmental disorder with autism and macrocephaly
MedGen UID:
767287
Concept ID:
C3554373
Disease or Syndrome
CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macrocephaly (most often during infancy) and tall stature (most typically during puberty), which is often accompanied by ASD and/or DD/ID. Most, if not all, affected individuals have some degree of DD, most commonly speech and motor delays. When present, ID is most often in the mild-to-moderate range. Sleep disturbance is characterized by difficulty with both initiation (delayed sleep onset) and maintenance (frequent night awakenings) of sleep. The most common gastrointestinal issue is constipation with or without periods of diarrhea. Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare).

Recent clinical studies

Etiology

Dresang HC, Wong AL, Buxbaum LJ
Cortex 2023 May;162:81-95. Epub 2023 Mar 6 doi: 10.1016/j.cortex.2023.01.010. PMID: 37018891Free PMC Article
El-Din MIG, George MY, Youssef FS
J Ethnopharmacol 2023 May 10;307:116213. Epub 2023 Jan 25 doi: 10.1016/j.jep.2023.116213. PMID: 36708885
Sacheli LM, Verga C, Zapparoli L, Seghezzi S, Tomasetig G, Banfi G, Paulesu E
Hum Brain Mapp 2023 Feb 1;44(2):373-387. Epub 2022 Aug 23 doi: 10.1002/hbm.26049. PMID: 35997233Free PMC Article
Bliege Bird R, Ready E, Power EA
Nat Hum Behav 2018 Jul;2(7):452-457. Epub 2018 Feb 12 doi: 10.1038/s41562-018-0298-3. PMID: 31097793
Tian AD, Schroeder J, Häubl G, Risen JL, Norton MI, Gino F
J Pers Soc Psychol 2018 Jun;114(6):851-876. doi: 10.1037/pspa0000113. PMID: 29771567

Diagnosis

Ma S, Lv B, Lin C, Sheng X, Zhu X
IEEE J Biomed Health Inform 2021 Jan;25(1):47-58. Epub 2021 Jan 5 doi: 10.1109/JBHI.2020.2987528. PMID: 32305948
Thonon H, Espeel F, Frederic F, Thys F
Acta Clin Belg 2020 Jun;75(3):193-199. Epub 2019 Mar 30 doi: 10.1080/17843286.2019.1592738. PMID: 30931817
Nagels A, Kircher T, Grosvald M, Steines M, Straube B
Psychiatry Res 2019 Mar;273:15-21. Epub 2018 Dec 27 doi: 10.1016/j.psychres.2018.12.107. PMID: 30639559
van den Bosch LM, Sinnaeve R, Hakkaart-van Roijen L, van Furth EF
Trials 2014 May 1;15:152. doi: 10.1186/1745-6215-15-152. PMID: 24885551Free PMC Article
Kenny DT, Mitchell HF
J Voice 2006 Mar;20(1):55-70. Epub 2005 May 31 doi: 10.1016/j.jvoice.2004.12.002. PMID: 15925482

Therapy

Kühne SJ, Reijnen E, Granja G, Hansen RS
Nutrients 2022 Aug 5;14(15) doi: 10.3390/nu14153204. PMID: 35956380Free PMC Article
Barone R, Spampinato C, Pino C, Palermo F, Scuderi A, Zavattieri A, Gulisano M, Giordano D, Rizzo R
PLoS One 2019;14(2):e0211802. Epub 2019 Feb 11 doi: 10.1371/journal.pone.0211802. PMID: 30742652Free PMC Article
So WC, Wong MK, Lam WY, Cheng CH, Yang JH, Huang Y, Ng P, Wong WL, Ho CL, Yeung KL, Lee CC
Mol Autism 2018;9:34. Epub 2018 May 24 doi: 10.1186/s13229-018-0217-5. PMID: 29796238Free PMC Article
Tian AD, Schroeder J, Häubl G, Risen JL, Norton MI, Gino F
J Pers Soc Psychol 2018 Jun;114(6):851-876. doi: 10.1037/pspa0000113. PMID: 29771567
van den Bosch LM, Sinnaeve R, Hakkaart-van Roijen L, van Furth EF
Trials 2014 May 1;15:152. doi: 10.1186/1745-6215-15-152. PMID: 24885551Free PMC Article

Prognosis

Sacheli LM, Verga C, Zapparoli L, Seghezzi S, Tomasetig G, Banfi G, Paulesu E
Hum Brain Mapp 2023 Feb 1;44(2):373-387. Epub 2022 Aug 23 doi: 10.1002/hbm.26049. PMID: 35997233Free PMC Article
Hasan T, Bin Karim MF, Mahadi MK, Nishat MM, Faisal F
J Healthc Eng 2022;2022:6963891. Epub 2022 Sep 25 doi: 10.1155/2022/6963891. PMID: 36199373Free PMC Article
Trung Bui H, Saadi I, Torfs K, Moeinaddini M, Cools M
Traffic Inj Prev 2022;23(5):215-220. Epub 2022 Apr 22 doi: 10.1080/15389588.2022.2056598. PMID: 35451895
Tomaschek F, Arnold D, Sering K, Tucker BV, van Rij J, Ramscar M
Lang Speech 2021 Sep;64(3):654-680. Epub 2020 Aug 18 doi: 10.1177/0023830920948552. PMID: 32811294
Brozdowski C, Emmorey K
Acta Psychol (Amst) 2020 Jul;208:103092. Epub 2020 Jun 9 doi: 10.1016/j.actpsy.2020.103092. PMID: 32531500Free PMC Article

Clinical prediction guides

Sacheli LM, Verga C, Zapparoli L, Seghezzi S, Tomasetig G, Banfi G, Paulesu E
Hum Brain Mapp 2023 Feb 1;44(2):373-387. Epub 2022 Aug 23 doi: 10.1002/hbm.26049. PMID: 35997233Free PMC Article
Hasan T, Bin Karim MF, Mahadi MK, Nishat MM, Faisal F
J Healthc Eng 2022;2022:6963891. Epub 2022 Sep 25 doi: 10.1155/2022/6963891. PMID: 36199373Free PMC Article
Kühne SJ, Reijnen E, Granja G, Hansen RS
Nutrients 2022 Aug 5;14(15) doi: 10.3390/nu14153204. PMID: 35956380Free PMC Article
Tomaschek F, Arnold D, Sering K, Tucker BV, van Rij J, Ramscar M
Lang Speech 2021 Sep;64(3):654-680. Epub 2020 Aug 18 doi: 10.1177/0023830920948552. PMID: 32811294
Brozdowski C, Emmorey K
Acta Psychol (Amst) 2020 Jul;208:103092. Epub 2020 Jun 9 doi: 10.1016/j.actpsy.2020.103092. PMID: 32531500Free PMC Article

Recent systematic reviews

Wirza R, Nazir S, Khan HU, García-Magariño I, Amin R
J Healthc Eng 2020;2020:8835544. Epub 2020 Sep 10 doi: 10.1155/2020/8835544. PMID: 32963749Free PMC Article

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