Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.

Matheus MG, Lehman RK, Bonilha L, Holden KR

Journal of child neurology 2015; (30(12)):1664-8 doi:10.1177/0883073815578524.

Effects of Communication Partner Instruction on the Communication of Individuals using AAC: A Meta-Analysis.

Kent-Walsh J, Murza KA, Malani MD, Binger C

Augmentative and alternative communication (Baltimore, Md. : 1985) 2015; (31(4)):271-84 doi:10.3109/07434618.2015.1052153.

Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.

Yamamoto T, Igarashi N, Shimojima K, et al.

Congenital anomalies 2016; (56(2)):91-3 doi:10.1111/cga.12123.

Effectiveness of Oral Baclofen in the Treatment of Spasticity in Children and Adolescents With Cerebral Palsy.

Navarrete-Opazo AA, Gonzalez W, Nahuelhual P

Archives of physical medicine and rehabilitation 2016; (97(4)):604-618 doi:10.1016/j.apmr.2015.08.417.

Misdiagnosis of gastroesophageal reflux disease as epileptic seizures in children.

Bayram AK, Canpolat M, Karacabey N, et al.

Brain & development 2016; (38(3)):274-9.

Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients.

Chaves A, Eberle SE, Defelipe L, et al.

Clinical biochemistry 2016; (49(10-11)):808-10.

Accuracy of clinical swallowing evaluation for diagnosis of dysphagia in children with laryngomalacia or glossoptosis.

Gasparin M, Schweiger C, Manica D, et al.

Pediatric pulmonology 2017; (52(1)):41-47 doi:10.1002/ppul.23484.

Best Practices for Intrathecal Baclofen Therapy: Patient Selection.

Saulino M, Ivanhoe CB, McGuire JR, et al.

Neuromodulation : journal of the International Neuromodulation Society 2016; (19(6)):607-15 doi:10.1111/ner.12447.

Movement Disorders Presenting in Childhood.

Kurian MA, Dale RC

Continuum (Minneapolis, Minn.) 2016; (22(4 Movement Disorders)):1159-85 doi:10.1212/CON.0000000000000367.

Characteristics of Children Hospitalized With Aspiration Pneumonia.

Hirsch AW, Monuteaux MC, Fruchtman G, et al.

Hospital pediatrics 2016; (6(11)):659-666 doi:10.1542/hpeds.2016-0064.

Clinical presentation and management of dyskinetic cerebral palsy.

Monbaliu E, Himmelmann K, Lin JP, et al.

The Lancet. Neurology 2017; (16(9)):741-749 doi:10.1016/S1474-4422(17)30252-1.

Evaluation of the Child With Developmental Impairments.

van Karnebeek CDM

Continuum (Minneapolis, Minn.) 2018; (24(1, Child Neurology)):228-247 doi:10.1212/CON.0000000000000564.

Trihexyphenidyl for dystonia in cerebral palsy.

Harvey AR, Baker LB, Reddihough DS, et al.

The Cochrane database of systematic reviews 2018; (5()):CD012430 doi:10.1002/14651858.CD012430.pub2.

Health Care System Factors Associated with Transition Preparation in Youth with Special Health Care Needs.

McKenzie RB, Sanders L, Bhattacharya J, Bundorf MK

Population health management 2019; (22(1)):63-73 doi:10.1089/pop.2018.0027.

S.M.A.R.T. Transitions: A Program Evaluation.

Cadogan K, Waldrop J, Maslow G, Chung RJ

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2018; (32(4)):e81-e90 doi:10.1016/j.pedhc.2018.02.008.

Intrathecal Baclofen Therapy-Practical Approach: Clinical Benefits and Complication Management.

Winter G, Beni-Adani L, Ben-Pazi H

Journal of child neurology 2018; (33(11)):734-741 doi:10.1177/0883073818785074.

Genetic landscape of pediatric movement disorders and management implications.

Cordeiro D, Bullivant G, Siriwardena K, et al.

Neurology. Genetics 2018; (4(5)):e265 doi:10.1212/NXG.0000000000000265.

[A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation].

Tang YL, Peng J, Xiong J, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(11)):829-834 doi:10.3760/cma.j.issn.0578-1310.2018.11.008.

Satisfaction With Care Coordination for Families of Children With Disabilities.

Sheftall AH, Chisolm DJ, Alexy ER, et al.

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2019; (33(3)):255-262 doi:10.1016/j.pedhc.2018.08.010.

Evaluation of Aspiration in Infants With Laryngomalacia and Recurrent Respiratory and Feeding Difficulties.

Irace AL, Dombrowski ND, Kawai K, et al.

JAMA otolaryngology-- head & neck surgery 2019; (145(2)):146-151 doi:10.1001/jamaoto.2018.3642.

Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.

Eandi Eberle S, Pepe C, Chaves A, et al.

Archivos argentinos de pediatria 2019; (117(4)):263-270 doi:10.5546/aap.2019.eng.267.

Improving outcomes through care coordination: Measuring care coordination of nurse practitioners.

Ruggiero K, Pratt P, Antonelli R

Journal of the American Association of Nurse Practitioners 2019; (31(8)):476-481 doi:10.1097/JXX.0000000000000276.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand G, Boespflug-Tanguy O, Tonduti D, et al.

Developmental medicine and child neurology 2019; (61(12)):1439-1447 doi:10.1111/dmcn.14332.

Botulinum Toxin in Children with Cerebral Palsy: An Update.

Hareb F, Bertoncelli CM, Rosello O, et al.

Neuropediatrics 2020; (51(1)):1-5 doi:10.1055/s-0039-1694988.

Relationships between DMD mutations and neurodevelopment in dystrophinopathy.

Thangarajh M, Hendriksen J, McDermott MP, et al.

Neurology 2019; (93(17)):e1597-e1604 doi:10.1212/WNL.0000000000008363.

Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Bean LJH, Funke B, Carlston CM, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(3)):453-461 doi:10.1038/s41436-019-0666-z.

Diagnosis and Management of Pediatric Dysphagia: A Review.

Lawlor CM, Choi S

JAMA otolaryngology-- head & neck surgery 2020; (146(2)):183-191 doi:10.1001/jamaoto.2019.3622.

Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.

Tejada MI, Ibarluzea N

Clinical genetics 2020; (97(5)):677-687 doi:10.1111/cge.13698.

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.

Krude H, Biebermann H, Schuelke M, et al.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2020; (128(6-07)):414-422 doi:10.1055/a-1108-1456.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Piard J, Béreau M, XiangWei W, et al.

Movement disorders : official journal of the Movement Disorder Society 2020; (35(7)):1224-1232 doi:10.1002/mds.28058.

Family Caregivers of Children With Medical Complexity: Health-Related Quality of Life and Experiences of Care Coordination.

Yu JA, Henderson C, Cook S, Ray K

Academic pediatrics 2020; (20(8)):1116-1123 doi:10.1016/j.acap.2020.06.014.

Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.

Panda PK, Sharawat IK, Joshi K, et al.

Brain & development 2020; (42(9)):646-654 doi:10.1016/j.braindev.2020.06.005.

Evaluation and Management of Respiratory Illness in Children With Cerebral Palsy.

Marpole R, Blackmore AM, Gibson N, et al.

Frontiers in pediatrics 2020; (8()):333 doi:10.3389/fped.2020.00333.

Schimke XLID syndrome results from a deletion in BCAP31.

Louie RJ, Collins DL, Friez MJ, et al.

American journal of medical genetics. Part A 2020; (182(9)):2168-2174 doi:10.1002/ajmg.a.61755.

Inherited Metabolic Disorders Presenting with Ataxia.

Silver G, Mercimek-Andrews S

International journal of molecular sciences 2020; (21(15)) doi:10.3390/ijms21155519.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Stamberger H, Hammer TB, Gardella E, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(2)):363-373 doi:10.1038/s41436-020-00988-9.

Family-Centered Care Coordination in an Interdisciplinary Neurodevelopmental Evaluation Clinic: Outcomes From Care Coordinator and Caregiver Reports.

McNally Keehn R, Enneking B, Ramaker M, et al.

Frontiers in pediatrics 2020; (8()):538633 doi:10.3389/fped.2020.538633.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Polla DL, Bhoj EJ, Verheij JBGM, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(4)):645-652 doi:10.1038/s41436-020-01040-6.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Meng L, Isohanni P, Shao Y, et al.

Annals of neurology 2021; (89(4)):828-833 doi:10.1002/ana.26019.

Tics, tremors and other movement disorders in childhood.

Blackburn J, Parnes M

Current problems in pediatric and adolescent health care 2021; (51(3)):100983 doi:10.1016/j.cppeds.2021.100983.

A Pediatric Patient With Seizures and Vagus Nerve Stimulation With Worsening Snoring and Apneas.

Morkous SS

Cureus 2021; (13(4)):e14379 doi:10.7759/cureus.14379.

Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.

Mouskou S, Katerelos A, Doulgeraki A, et al.

Molecular syndromology 2021; (12(3)):194-199 doi:10.1159/000514122.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Manickam K, McClain MR, Demmer LA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(11)):2029-2037 doi:10.1038/s41436-021-01242-6.

Predictors of gross motor function and activities of daily living in children with cerebral palsy.

Tarfa HB, Hassan AB, Badaru UM, Abdullahi A

International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation 2021; (44(4)):330-335 doi:10.1097/MRR.0000000000000497.

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Saffari A, Schröter J, Garbade SF, et al.

Autophagy 2022; (18(7)):1715-1727 doi:10.1080/15548627.2021.1990671.

Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis.

Sacco S, Bouis C, Gallard J, et al.

American journal of medical genetics. Part A 2022; (188(3)):818-827 doi:10.1002/ajmg.a.62587.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Smits RM, Vissers E, Te Pas R, et al.

Orphanet journal of rare diseases 2022; (17(1)):153 doi:10.1186/s13023-022-02305-w.

Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.

Morison LD, Braden RO, Amor DJ, et al.

European journal of human genetics : EJHG 2022; (30(7)):800-811 doi:10.1038/s41431-022-01079-w.

Mental health care for rare disease in the UK - recommendations from a quantitative survey and multi-stakeholder workshop.

Spencer-Tansley R, Meade N, Ali F, et al.

BMC health services research 2022; (22(1)):648 doi:10.1186/s12913-022-08060-9.

Neuroimaging in cerebellar ataxia in childhood: A review.

Serrallach BL, Orman G, Boltshauser E, et al.

Journal of neuroimaging : official journal of the American Society of Neuroimaging 2022; (32(5)):825-851 doi:10.1111/jon.13017.

Improving Care for Families and Children with Neurodevelopmental Disorders and Co-occurring Chronic Health Conditions Using a Care Coordination Intervention.

Gall VN, Buchhalter J, Antonelli RC, et al.

Journal of developmental and behavioral pediatrics : JDBP 2022; (43(8)):444-453 doi:10.1097/DBP.0000000000001102.

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

Baladron B, Mielu LM, López-Martín E, et al.

International journal of molecular sciences 2022; (23(16)) doi:10.3390/ijms23169480.

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

Pérez-Dueñas B, Gorman K, Marcé-Grau A, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(11)):2197-2209 doi:10.1002/mds.29182.

Gastroesophageal Reflux Disease in a One-Week-Old Infant Presenting With Cyanosis and Respiratory Distress.

Ledersnaider M, Kreilein N, Triplett R, Peterman NJ

Cureus 2022; (14(9)):e29632 doi:10.7759/cureus.29632.

Electro-clinical features and management of the late stage of Lafora disease.

d'Orsi G, Di Claudio MT, Palumbo O, Carella M

Frontiers in neurology 2022; (13()):969297 doi:10.3389/fneur.2022.969297.

Augmentative and alternative communication with children with severe/profound intellectual and multiple disabilities: speech language pathologists' clinical practices and reasoning.

Rensfeld Flink A, Thunberg G, Nyman A, et al.

Disability and rehabilitation. Assistive technology 2024; (19(3)):962-974 doi:10.1080/17483107.2022.2137252.

Demands Associated With an Augmentative and Alternative Communication System in Relation to Alternative Forms of Access for Individuals With Motor Impairments.

Sowers DJ, Wilkinson KM

American journal of speech-language pathology 2023; (32(1)):37-54 doi:10.1044/2022_AJSLP-22-00006.

Adverse effects following botulinum toxin A injections in children with cerebral palsy.

Sapienza M, Kapoor R, Alberghina F, et al.

Journal of pediatric orthopedics. Part B 2023; (32(5)):435-451 doi:10.1097/BPB.0000000000001055.

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).

Carter MT, Srour M, Au PB, et al.

Journal of medical genetics 2023; (60(6)):523-532 doi:10.1136/jmg-2022-108962.

Understanding and managing respiratory infections in children and young adults with neurological impairment.

Proesmans M, Vermeulen F, Boon M

Expert review of respiratory medicine 2023; (17(3)):203-211 doi:10.1080/17476348.2023.2192483.

Effectiveness of Structured Care Coordination for Children With Medical Complexity: The Complex Care for Kids Ontario (CCKO) Randomized Clinical Trial.

Cohen E, Quartarone S, Orkin J, et al.

JAMA pediatrics 2023; (177(5)):461-471 doi:10.1001/jamapediatrics.2023.0115.

Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.

Soliani L, Alcalá San Martín A, Balsells S, et al.

Movement disorders clinical practice 2023; (10(4)):547-557 doi:10.1002/mdc3.13711.

A delayed intervention start randomized controlled trial of high- and low-tech communication training approaches for school-age autistic children with co-occurring intellectual disability.

Gilroy SP, McCleery JP, Leader G

Journal of applied behavior analysis 2023; (56(3)):593-606 doi:10.1002/jaba.989.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Maroofian R, Kaiyrzhanov R, Cali E, et al.

Brain : a journal of neurology 2023; (146(12)):5031-5043 doi:10.1093/brain/awad257.

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.

Writzl K, Mavčič B, Maver A, et al.

Frontiers in genetics 2023; (14()):1167054 doi:10.3389/fgene.2023.1167054.

Multiple motor disorders in cerebral palsy.

Dar H, Stewart K, McIntyre S, Paget S

Developmental medicine and child neurology 2024; (66(3)):317-325 doi:10.1111/dmcn.15730.

Prevention of hip dislocation in severe cerebral palsy (GMFCS III-IV-V): an interdisciplinary and multi-professional Care Pathway for clinical best practice implementation.

Battisti N, Cozzaglio M, Faccioli S, et al.

European journal of physical and rehabilitation medicine 2023; (59(6)):714-723 doi:10.23736/S1973-9087.23.07978-9.

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Parra A, Pascual P, Cazalla M, et al.

Clinical genetics 2024; (105(2)):140-149 doi:10.1111/cge.14440.

Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.

Deshmukh SP, Couser NL

International journal of molecular epidemiology and genetics 2023; (14(3)):34-41.

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.

Han JY, Cho YG, Jo DS, Park J

International journal of molecular sciences 2023; (25(1)) doi:10.3390/ijms25010253.

Variant reclassification and clinical implications.

Walsh N, Cooper A, Dockery A, O'Byrne JJ

Journal of medical genetics 2024; (61(3)):207-211 doi:10.1136/jmg-2023-109488.

Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

Ramon-Gomez JL, Cortés-Rojas MC, Polania-Puentes MJ, Guerrero-Ruiz GDP

Movement disorders clinical practice 2024; (11(5)):567-570 doi:10.1002/mdc3.14009.

Clinical outcomes before and after videofluoroscopic swallow study in children 24 months of age or younger.

Barth FL, Levy DS, Gasparin M, et al.

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2024; (50(1)):e20230290 doi:10.36416/1806-3756/e20230290.

[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion].

Arroyo-Carrera I, Romero-Peguero R, Martín-Fernández R, et al.

Revista de neurologia 2024; (78(11)):323-326 doi:10.33588/rn.7811.2024057.

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.

Zsigmond A, Till Á, Bene J, et al.

International journal of molecular sciences 2024; (25(11)) doi:10.3390/ijms25115709.

Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.

Lin L, Zhang Y, Pan H, et al.

Prenatal diagnosis 2024; (44(9)):1053-1061 doi:10.1002/pd.6628.

Developmental and epileptic encephalopathies.

Scheffer IE, Zuberi S, Mefford HC, et al.

Nature reviews. Disease primers 2024; (10(1)):61 doi:10.1038/s41572-024-00546-6.

Conference proceedings: Inaugural meeting of the consortium for autism, genetic neurodevelopmental disorders, and digestive diseases.

Halladay A, Croffie J, Dallman J, et al.

Journal of pediatric gastroenterology and nutrition 2024; (79(5)):1062-1070 doi:10.1002/jpn3.12360.

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Çelik N, Demir K, Dibeklioğlu SE, et al.

European journal of pediatrics 2024; (184(1)):92 doi:10.1007/s00431-024-05931-7.

Swallowing disorders in cerebral palsy: a systematic review of oropharyngeal Dysphagia, nutritional impact, and health risks.

Calderone A, Militi D, Cardile D, et al.

Italian journal of pediatrics 2025; (51(1)):57 doi:10.1186/s13052-025-01903-1.

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Wilpert NM, Hewitt AL, Pons R, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(5)):938-949 doi:10.1002/mds.30152.

Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family.

Liaqat K, Treat K, Mantcheva L, et al.

Clinical genetics 2025; (108(1)):109-111 doi:10.1111/cge.14741.

Sleep problems and sleep disordered breathing in children with cerebral palsy.

Dhandayuthapani R, McDougall CM, Gahleitner F, et al.

Paediatric respiratory reviews 2026; (58()):32-38 doi:10.1016/j.prrv.2025.04.007.

Mapping dysphagia in pediatric dystonia.

Keles MN, Serdaroglu E

PloS one 2025; (20(6)):e0324140 doi:10.1371/journal.pone.0324140.

Tiratricol: First Approval.

Lamb YN

Drugs 2025; (85(8)):1059-1065 doi:10.1007/s40265-025-02197-7.

Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.

d'Orsi G, Di Claudio MT, Liantonio A, et al.

Orphanet journal of rare diseases 2025; (20(1)):447 doi:10.1186/s13023-025-03976-x.

Mitigating Feeding Disorders and Malnutrition in Children with Developmental Disabilities: A Narrative Review.

Rohil A, Jauhari P, Malik R, et al.

Indian pediatrics 2025; (62(12)):915-925 doi:10.1007/s13312-025-00205-3.

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Bruschi F, Vaia Y, Antonello CE, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(2)):509-514 doi:10.1002/mds.70093.

Using the BaByVFSS Impairment Profile to Characterize the Impact of Thin and Mildly Thick Liquid Consistencies on Validated Physiological Components of Swallowing in Bottle-Fed Children.

Lefton-Greif MA, Carson KA, Pinto JM, Martin-Harris B

American journal of speech-language pathology 2025; (34(6)):3454-3465 doi:10.1044/2025_AJSLP-25-00203.

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.

Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, et al.

Annals of medicine 2026; (58(1)):2609424 doi:10.1080/07853890.2025.2609424.

The Spectrum of Movement Disorders in Children with Genetic Developmental and Epileptic Encephalopathies: A Cross-Sectional Observational Study.

Kansal B, Roy Chowdhury S, Ganguly J, et al.

Movement disorders clinical practice 2026; (13(6)):1452-1467 doi:10.1002/mdc3.70501.

Respiratory Syncytial Virus Infection Triggering a Pulmonary Hypertensive Crisis in a Boy With Prader-Willi Syndrome-Associated Sleep-Disordered Breathing.

Tsukahara M, Yagasaki H, Makino K, et al.

Cureus 2026; (18(2)):e103890 doi:10.7759/cureus.103890.

Clinical and Biochemical Monitoring of Monocarboxylate Transporter 8 Deficiency (Allan-Herndon-Dudley Syndrome) across the Lifespan: Practical Considerations for Multidisciplinary Care.

Dietrich JW, Jelesch E, Linder-Lucht M, et al.

Hormone research in paediatrics 2026; 1-14 doi:10.1159/000551857.

[CNKSR2 gene variants causing Houge type of X-linked syndromic intellectual developmental disorder: Seven cases and literature review].

Duan H, Xiong J, Pang N, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2026; (51(2)):333-340 doi:10.11817/j.issn.1672-7347.2026.240640.

The interactions between sleep difficulties and clinical features in children with rare genetic syndromes: a structural equation modelling approach.

O'Sullivan R, Thompson P, Bissell S, et al.

BMC pediatrics 2026; (26(1)).

Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study.

Wang B, Ji X, Wu F, et al.

European journal of pediatrics 2026; (185(7)).

Developmental outcomes of young children with an autism diagnosis and its associated clinical correlates.

Aishworiya R, Sundarimaa E, Chan SP, Vashishtha R

Frontiers in psychiatry 2026; (17()):1836701 doi:10.3389/fpsyt.2026.1836701.