Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.

Authors: Kaiser, Nadja¹ (AUTHOR), Magg, Janine¹ (AUTHOR) Janine.Magg@med.uni-tuebingen.de, Nägele, Thomas² (AUTHOR), Wolf, Nicole³ (AUTHOR), Krägeloh-Mann, Ingeborg¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/20/2025, Vol. 20 Issue 1, p1-9. 9p.

Subject Terms: *DEVELOPMENTAL delay, *PORPHYRIA, *EPILEPSY, *CUTANEOUS manifestations of general diseases, *NEUROLOGIC manifestations of general diseases, *NEURAL development, *DEMYELINATION

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Authors: Chorin, Odelia^1,2,3 (AUTHOR) odelia.chorin@sheba.health.gov.il, Greenbaum, Lior^2,3 (AUTHOR), Lev-Hochberg, Shelly^1,2 (AUTHOR), Feinstein-Goren, Neta² (AUTHOR), Eliyahu, Aviva² (AUTHOR), Shani, Hagit^2,4 (AUTHOR), Pras, Elon^2,3 (AUTHOR), Weissbach, Tal^3,4 (AUTHOR), Bolkier, Yoav^3,5 (AUTHOR), Heimer, Gali^3,6 (AUTHOR), Lev, Dorit^3,7 (AUTHOR), Michelson, Marina^3,7 (AUTHOR), Regev, Miriam^2,3 (AUTHOR), Josefsberg, Sagi⁸ (AUTHOR), Batzir, Nurit Assia⁹ (AUTHOR), Shalata, Adel^10,11 (AUTHOR), Spiegel, Ronen^11,12,13 (AUTHOR), Segel, Reeval^14,15 (AUTHOR), Lobel, Orit¹⁴ (AUTHOR), Abu-Libdeh, Bassam¹⁶ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/18/2025, Vol. 20 Issue 1, p1-11. 11p.

Subject Terms: *AUTISM spectrum disorders, *DEVELOPMENTAL delay, *ISRAELIS, *NEURAL development, *GENES, *PATIENT care, *PHYSICIAN practice patterns

Geographic Terms: ISRAEL

Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.

Authors: Medyanik, Alexandra D.¹ (AUTHOR) al.medyanik111@gmail.com, Anisimova, Polina E.¹ (AUTHOR) polina.adyasova@yandex.ru, Kustova, Angelina O.¹ (AUTHOR) elakust@gmail.com, Tarabykin, Victor S.^1,2 (AUTHOR) elen_kondakova@list.ru, Kondakova, Elena V.¹ (AUTHOR)

Source: Biomolecules (2218-273X). Jan2025, Vol. 15 Issue 1, p133. 32p.

Subject Terms: *DEVELOPMENTAL delay, *EPILEPTIFORM discharges, *EPILEPSY, *INTELLECTUAL disabilities, *SYNAPTOGENESIS

Pontocerebellar Hypoplasia Type 6: A Rare Disorder in Two Siblings.

Authors: KHAN, H. A.¹ kona5415@yahoo.com, PARVIN, J.², SAHA, D³, HOSSAIN, S.⁴, HOSSAIN, M. M.⁵, SAHA, N. C.⁶

Source: Journal of Bangladesh College of Physicians & Surgeons. Jan2025, Vol. 43 Issue 1, p93-97. 5p.

Subject Terms: *DEVELOPMENTAL delay, *PHYSICIANS, *MICROCEPHALY, *SYMPTOMS, *GENETIC mutation

Developmental delay and its associated factors among children of 9 months and of 18 months attending primary health facilities in an urban resettlement area of East Delhi.

Authors: Verma, Bhavana¹ (AUTHOR) bhavnalhmc91@gmail.com, Chhabra, Pragti¹ (AUTHOR), Maroof, Amir K.¹ (AUTHOR), Aggarwal, Anju² (AUTHOR)

Source: Journal of Family Medicine & Primary Care. Dec2024, Vol. 13 Issue 12, p5674-5679. 6p.

Subject Terms: *DEVELOPMENTAL delay, *HEALTH facilities, *FOLLOW-up studies (Medicine), *LOGISTIC regression analysis, *CHILD welfare

Pin1 promotes human CaV2.1 channel polyubiquitination by RNF138: pathophysiological implication for episodic ataxia type 2.

Authors: Fu, Ssu-Ju¹ (AUTHOR), Cheng, Kai-Min¹ (AUTHOR), Hsiao, Cheng-Tsung^1,2,3 (AUTHOR), Fang, Ya-Ching⁴ (AUTHOR), Jeng, Chung-Jiuan^4,5 (AUTHOR) cjjeng@nycu.edu.tw, Tang, Chih-Yung¹ (AUTHOR) tang@ntu.edu.tw

Source: Cell Communication & Signaling. 11/28/2024, Vol. 22 Issue 1, p1-26. 26p.

Subject Terms: *NEUROLOGICAL disorders, *DEVELOPMENTAL delay, *QUALITY control, *ENDOPLASMIC reticulum, *PROTEIN expression, *ISOMERASES

A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency.

Authors: Wen, Ting^1,2,3 (AUTHOR), Shayota, Brian J.⁴ (AUTHOR), Wallace, Lauren² (AUTHOR), Mani, Coumarane² (AUTHOR), Davis, Neal⁵ (AUTHOR), Zhao, Jian^1,2 (AUTHOR) jian.zhao@path.utah.edu, Damante, Giuseppe (AUTHOR)

Source: Case Reports in Genetics. 11/27/2024, Vol. 2024, p1-5. 5p.

Subject Terms: *CHILD patients, *DEVELOPMENTAL delay, *GENETIC disorders, *INTELLECTUAL disabilities, *ATOPY

Unveiling predictors of developmental delay among under-fives: Insights from a community study.

Authors: Kiran, Kumari A.¹ (AUTHOR), Kumar, Dewesh¹ (AUTHOR), Anand, Prerna² (AUTHOR) drprerna5991@gmail.com, Choudhary, Jaideep K.³ (AUTHOR), Kujur, Manisha¹ (AUTHOR), Sahu, Surendra⁴ (AUTHOR), Tanu, Tanya⁵ (AUTHOR), Rajnish, Sahil N.¹ (AUTHOR), Sagar, Vidya¹ (AUTHOR), Hembrom, Shailesh S.¹ (AUTHOR), Raj, Mayank² (AUTHOR)

Source: Journal of Family Medicine & Primary Care. Nov2024, Vol. 13 Issue 11, p4979-4984. 6p.

Subject Terms: *DEVELOPMENTAL delay, *CHILD development, *CLUSTER sampling, *CHI-squared test, *LOGISTIC regression analysis

Understanding Childhood Screenings for Autism.

Authors: SHELDRICK, CHRIS (AUTHOR)

Source: Scientific American. Apr2025, Vol. 332 Issue 4, p78-79. 2p. 4 Graphs.

Subjects: AUTISM in children, AUTISTIC children, MEDICAL screening, DEVELOPMENTAL delay, PEDIATRIC therapy, PREDICTIVE validity

Inclusion of Infants and Toddlers: Perspectives from Childcare Providers.

Authors: Sawyer, Grace E.¹, grace.sawyer20@gmail.com, Sheikh, Mariyam Y.¹, mariyamyousaf@gmail.com, Hardy, Jessica K.¹, jessica.k.hardy@gmail.com

Source: Early Childhood Education Journal; Mar2025, Vol. 53 Issue 3, p935-946, 12p

Children's limited tooling ability in a novel concurrent tool use task supports the innovation gap.

Authors: Colbourne, Jennifer A. D.¹ jadcolbourne@gmail.com, Auersperg, Alice M. I.¹, Beck, Sarah R.²

Source: Scientific Reports. 9/13/2024, Vol. 14 Issue 1, p1-12. 12p.

Subject Terms: *DEVELOPMENTAL delay, *OBJECT relations, *PROBLEM solving, *TIME management, *SCHOOL children

Paths of cognitive and social-emotional delays before age three in rural China: Predictive power on skills at preschool age.

Authors: Wang, Lei¹ (AUTHOR) wangleiml@snnu.edu.cn, Jiang, Dingjing¹ (AUTHOR), Chen, Yifei¹ (AUTHOR), Zhang, Siqi² (AUTHOR), Rozelle, Scott² (AUTHOR)

Source: PLoS ONE. 9/6/2024, Vol. 19 Issue 9, p1-17. 17p.

Subject Terms: *DEVELOPMENTAL delay, *RURAL children, *COGNITION, *COGNITIVE development, *SOCIOECONOMIC status, *CHILD development

A novel AUTS2 Variant in a Patient with Global Developmental Delay and Intellectual Disability.

Authors: Shboul, Mohammad A.¹ maalshboul@just.edu.jo, Darweesh, Reem F.¹, El-Khateeb, Mohammad², Fathallah, Rajaa²

Source: Jordan Journal of Biological Sciences. Jun2024, Vol. 17 Issue 2, p217-222. 6p.

Subject Terms: *INTELLECTUAL disabilities, *DEVELOPMENTAL delay, *AGENESIS of corpus callosum, *GENETIC variation, *GENETIC counseling, *EXOMES

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.

Authors: Duan, Chunwen^1,2 (AUTHOR), Ding, Chengcheng² (AUTHOR), Sun, Xihao² (AUTHOR), Mao, Shengru^2,3 (AUTHOR), Liang, Yuqin² (AUTHOR), Liu, Xinyu⁴ (AUTHOR), Ding, Xiaoyan⁴ (AUTHOR), Chen, Jiansu^1,2,5 (AUTHOR) chenjiansu2000@163.com, Tang, Shibo^1,2,6 (AUTHOR) tangshibo@vip.163.com

Source: Stem Cell Research & Therapy. 5/31/2024, Vol. 15 Issue 1, p1-19. 19p.

Subject Terms: *GENE therapy, *DEVELOPMENTAL delay, *INDUCED pluripotent stem cells, *PHOTORECEPTORS, *MONONUCLEAR leukocytes, *ANIMAL rescue

Cognitive facet and paradigm of the caregivers of children with developmental problems in Eastern India.

Authors: De, Partha¹, Chatterjee, Nandita², Pal, Ranabir³, Ghosh, Amrita⁴ amritaghosh1973@yahoo.com

Source: Journal of Family Medicine & Primary Care. May2024, Vol. 13 Issue 5, p2006-2014. 9p.

Subject Terms: *MEDICAL care, *DEVELOPMENTAL delay, *DEVELOPMENTAL disabilities, *PRIMARY health care, *GENDER inequality, *CHILDREN with developmental disabilities

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.

Authors: Ma, Heqian¹ (AUTHOR), Zhu, Lina^2,3,4 (AUTHOR), Yang, Xiao^2,3,4 (AUTHOR), Ao, Meng¹ (AUTHOR), Zhang, Shunxiang¹ (AUTHOR), Guo, Meizhen¹ (AUTHOR), Dai, Xuelin¹ (AUTHOR), Ma, Xiuwei^2,3,4 (AUTHOR) pony007@vip.sina.com, Zhang, Xiaoying^1,5,6 (AUTHOR) xiaoyingzhang79@163.com

Source: BMC Genomics. 4/22/2024, Vol. 25 Issue 1, p1-11. 11p.

Subject Terms: *CHILDREN with developmental disabilities, *DEVELOPMENTAL delay, *CHILDREN with intellectual disabilities, *AUDITORY evoked response, *CHINESE people, *INTELLECTUAL disabilities, *SINGLE nucleotide polymorphisms

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.

Authors: Kim, Kyung Hee¹ (AUTHOR) kyunghee.kim93@gmail.com, Han, Ji Yoon² (AUTHOR) han024@catholic.ac.kr, Park, Joonhong^3,4 (AUTHOR) miziro@jbnu.ac.kr, Cho, Jung Sun^1,5 (AUTHOR) tworugi@daum.net

Source: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3701. 8p.

Subject Terms: *SINUS of valsalva, *DEVELOPMENTAL delay, *AORTIC root aneurysms, *CONTINUOUS positive airway pressure, *AORTIC valve, *MITRAL valve

Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review.

Authors: De Falco, Domenico¹, defalcodomenico@ymail.com, Di Stasio, Dario², dario.distasio@unicampania.it, Lauritano, Dorina³, dorina.lauritano@unife.it, Lucchese, Alberta², alberta.lucchese@unicampania.it, Petruzzi, Massimo¹, massimo.petruzzi@uniba.it

Source: Applied Sciences (2076-3417); Feb2025, Vol. 15 Issue 4, p2195, 18p

Agreement Between Tele- and Face-to-Face Assessment of Neuromotor Development in High-Risk Children.

Authors: Rubio-López, Ana Isabel¹, anaisabelrubio@correo.ugr.es, Valenza, Marie Carmen¹, cvalenza@ugr.es, Raya-Benítez, Julia², juliarb@ugr.es, Valenza-Peña, Geraldine¹, geraldinevalenza@ugr.es, Cabrera-Martos, Irene¹, irenecm@ugr.eslauralopez@ugr.es, López-López, Laura¹, abenitez@ugr.es, Benítez-Feliponi, Ángela¹

Source: Applied Sciences (2076-3417); Jan2025, Vol. 15 Issue 2, p723, 12p

Linking Respiratory Challenges in KCNQ2 Encephalopathy to "Phox2b" Neurons in the Retrotrapezoid Nucleus.

Authors: Gu, Bin¹ (AUTHOR)

Source: Epilepsy Currents. Jul/Aug2024, Vol. 24 Issue 4, p289-291. 3p.

Subject Terms: *TRANSCRIPTION factors, *DEVELOPMENTAL delay, *GENETIC variation, *LABORATORY mice, *REFLEXES