Works matching Rett syndrome

Results: 2269

Classical Rett Syndrome in a Ghanaian Child: A case report.

Published in:

2009

By:

Badoe, E. V.

Publication type:

Case Study

Functional Communication Training in Rett Syndrome: A Preliminary Study.

Published in:

American Journal on Intellectual & Developmental Disabilities, 2014, v. 119, n. 4, p. 340, doi. 10.1352/1944-7558-119.4.340

By:

Byiers, Breanne J.;
Dimian, Adele;
Symons, Frank J.

Publication type:

Article

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.

Published in:

2017

By:

Clarkson, Tessa;
LeBlanc, Jocelyn;
DeGregorio, Geneva;
Vogel-Farley, Vanessa;
Barnes, Katherine;
Kaufmann, Walter E.;
Nelson, Charles A.

Publication type:

journal article

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure.

Published in:

American Journal on Intellectual & Developmental Disabilities, 2023, v. 128, n. 3, p. 237, doi. 10.1352/1944-7558-128.3.237

By:

Oberman, Lindsay M.;
Leonard, Helen;
Downs, Jenny;
Cianfaglione, Rina;
Stahlhut, Michelle;
Larsen, Jane L.;
Madden, Katherine V.;
Kaufmann, Walter E.

Publication type:

Article

The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 4, p. 567, doi. 10.1017/cjn.2016.8

By:

Humphreys, Peter;
Barrowman, Nick

Publication type:

Article

FUNKCJONOWANIE RODZINY DZIECKA Z ZESPOŁEM RETTA ZE SZCZEGÓLNYM UWZGLĘDNIENIEM ROLI KOMUNIKACJI ALTERNATYWNEJ (AAC) - STUDIUM INDYWIDUALNEGO PRZYPADKU.

Published in:

Szkoła Specjalna, 2023, v. 84, n. 3, p. 219, doi. 10.5604/01.3001.0053.8981

By:

CHOSZCZYK, KATARZYNA

Publication type:

Article

Rett Syndrome: Prevalence Among Chinese and a Comparison of MECP2 Mutations of Classic Rett Syndrome With Other Neurodevelopmental Disorders.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 12, p. 1397, doi. 10.1177/0883073807307091

By:

Wong, Virginia C. N.;
Li, Susannay Y. H.

Publication type:

Article

Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.

Published in:

Journal of Developmental & Physical Disabilities, 2018, v. 30, n. 2, p. 281, doi. 10.1007/s10882-017-9585-6

By:

Borst, Hanneke E.;
Townend, Gillian S.;
van Eck, Mirjam;
Smeets, Eric;
van den Berg, Mariëlle;
Laan, Aleid;
Curfs, Leopold M. G.

Publication type:

Article

The Rett Syndrome Gross Motor Scale – Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome.

Published in:

Developmental Neurorehabilitation, 2022, v. 25, n. 2, p. 133, doi. 10.1080/17518423.2021.1960920

By:

Borst, Hanneke;
Weeda, Josianne;
Downs, Jenny;
Curfs, Leopold;
de Bie, Rob

Publication type:

Article

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.

Published in:

Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437

By:

Frankel, Eric;
Podder, Avijit;
Sharifi, Megan;
Pillai, Roshan;
Belnap, Newell;
Ramsey, Keri;
Dodson, Julius;
Venugopal, Pooja;
Brzezinski, Molly;
Llaci, Lorida;
Gerald, Brittany;
Mills, Gabrielle;
Sanchez-Castillo, Meredith;
Balak, Chris D.;
Szelinger, Szabolcs;
Jepsen, Wayne M.;
Siniard, Ashley L.;
Richholt, Ryan;
Naymik, Marcus;
Schrauwen, Isabelle

Publication type:

Article

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Published in:

Genes, 2021, v. 12, n. 8, p. 1157, doi. 10.3390/genes12081157

By:

Spagnoli, Carlotta;
Fusco, Carlo;
Pisani, Francesco

Publication type:

Article

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09575-4

By:

Downs, Jenny;
Wong, Kingsley;
Leonard, Helen

Publication type:

Article

Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome.

Published in:

Journal of Integrative Neuroscience, 2022, v. 21, n. 2, p. 1, doi. 10.31083/j.jin2102059

By:

Kapel, Alen;
Kovacic, Tine;
Kos, Natasa;
Velnar, Tomaz

Publication type:

Article

Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome.

Published in:

Child's Nervous System, 2017, v. 33, n. 11, p. 1883, doi. 10.1007/s00381-017-3567-y

By:

Ueda, Keisuke;
Sood, Sandeep;
Asano, Eishi;
Kumar, Ajay;
Luat, Aimee

Publication type:

Article

Microvascular abnormalities in Rett syndrome.

Published in:

2013

By:

Bianciardi, G.;
Acampa, M.;
Lamberti, I.;
Sartini, S.;
Servi, M.;
Biagi, F.;
Bocchi, V.;
Hayek, J.;
Pastorelli, M.

Publication type:

Letter

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2023.1341746

By:

Kennedy, Melissa;
Glass, Larry;
Glaze, Daniel G.;
Kaminsky, Steve;
Percy, Alan K.;
Neul, Jeffrey L.;
Jones, Nancy E.;
Tropea, Daniela;
Horrigan, Joseph P.;
Nues, Paige;
Bishop, Kathie M.;
Youakim, James M.

Publication type:

Article

Trofinetide--a new chapter in rett syndrome's treatment.

Published in:

Frontiers in Pharmacology, 2023, p. 01, doi. 10.3389/fphar.2023.1284035

By:

Furqan, Muhammad

Publication type:

Article

Sleep Disturbance in Children with Rett Syndrome: A Qualitative Investigation of the Parental Experience.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2005, v. 18, n. 3, p. 201, doi. 10.1111/j.1468-3148.2005.00220.x

By:

McDougall, Allyson;
Kerr, Alison M.;
Espie, Colin A.

Publication type:

Article

Anesthetic management of a pediatric patient with Rett syndrome - A case report -.

Published in:

Anesthesia & Pain Medicine, 2018, v. 13, n. 2, p. 173, doi. 10.17085/apm.2018.13.2.173

By:

Lee, A. Ran;
Hyung Kwan Lee;
Young Ung Kim;
Jae Ho Lee;
Ho Jun Kang;
Se Hun Park

Publication type:

Article

Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 9, p. 4085, doi. 10.1007/s00431-024-05668-3

By:

Berger, Tal David;
Fogel Berger, Chen;
Gara, Sewar;
Ben-Zeev, Bruria;
Weiss, Batia

Publication type:

Article

Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 3, p. 997, doi. 10.1007/s10803-024-06238-0

By:

Raspa, Melissa;
Gwaltney, Angela;
Bann, Carla;
von Hehn, Jana;
Benke, Timothy A.;
Marsh, Eric D.;
Peters, Sarika U.;
Ananth, Amitha;
Percy, Alan K.;
Neul, Jeffrey L.

Publication type:

Article

Drug Studies on Rett Syndrome: From Bench to Bedside.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 8, p. 2740, doi. 10.1007/s10803-020-04381-y

By:

Gomathi, Mohan;
Padmapriya, Subramanian;
Balachandar, Vellingiri

Publication type:

Article

Brief Report: Modest but Clinically Meaningful Effects of Early Behavioral Intervention in Twins with Rett Syndrome—A Case Study.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 12, p. 5063, doi. 10.1007/s10803-019-04185-9

By:

Titlestad, Kristine Berg;
Eldevik, Sigmund

Publication type:

Article

Brief Report: Systematic Review of Rett Syndrome in Males.

Published in:

2015

By:

Reichow, Brian;
George-Puskar, Annie;
Lutz, Tara;
Smith, Isaac;
Volkmar, Fred

Publication type:

Report

MECP2 mutations in Serbian Rett syndrome patients.

Published in:

Acta Neurologica Scandinavica, 2007, v. 116, n. 6, p. 413, doi. 10.1111/j.1600-0404.2007.00893.x

By:

Djarmati, A.;
Dobričić, V.;
Kecmanović, M.;
Marsh, P.;
Jančić-Stefanović, J.;
Klein, C.;
Djurić, M.;
Romac, S.

Publication type:

Article

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

Published in:

2016

By:

Downs, Jenny;
Forbes, David;
Johnson, Michael;
Leonard, Helen

Publication type:

journal article

Trisomy 21 and Rett syndrome: A double burden.

Published in:

Journal of Paediatrics & Child Health, 2004, v. 40, n. 7, p. 406, doi. 10.1111/j.1440-1754.2004.00413.x

By:

Leonard, H.;
Weaving, L.;
Estaugh, P.;
Smith, L.;
Delatycki, M.;
Engerström, I. Witt;
Christodoulou, J.

Publication type:

Article

Family data in Rett syndrome: association with other genetic disorders.

Published in:

2000

By:

Leonard, H;
Fyfe, S;
Dye, D;
Hockey, A;
Christodoulou, J

Publication type:

journal article

Spectrum of MECP2 mutations in Iranian Azeri Turkish Rett syndrome patients.

Published in:

Neurology Asia, 2023, v. 28, n. 2, p. 381, doi. 10.54029/2023xvm

By:

Nazm, Saba Ahmadpour;
Jahanafrooz, Zohreh;
Bonyadi, Mortaza;
Masoudi, Noushin;
Nouri, Zahra;
Barzegar, Mohammad

Publication type:

Article

Biogenic Amines in Rett Syndrome: The Usual Suspects.

Published in:

Behavior Genetics, 2010, v. 40, n. 1, p. 59, doi. 10.1007/s10519-009-9303-y

By:

Roux, Jean-Christophe;
Villard, Laurent

Publication type:

Article

Spinal Fusion for Scoliosis in Rett Syndrome With an Emphasis on Respiratory Failure and Opioid Usage.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 2, p. 153, doi. 10.1177/0883073815585352

By:

Rumbak, Dania M.;
Mowrey, Wenzhu;
W. Schwartz, Skai;
Sarwahi, Vishal;
Djukic, Aleksandra;
Killinger, James S.;
Katyal, Chhavi

Publication type:

Article

Improving Treatment Trial Outcomes for Rett Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 13, p. 1743, doi. 10.1177/0883073815579707

By:

Neul, Jeffrey L.;
Glaze, Daniel G.;
Percy, Alan K.;
Feyma, Tim;
Beisang, Arthur;
Dinh, Thuy;
Suter, Bernhard;
Anagnostou, Evdokia;
Snape, Mike;
Horrigan, Joseph;
Jones, Nancy E.

Publication type:

Article

Respiratory Disturbances in Rett Syndrome: Don’t Forget to Evaluate Upper Airway Obstruction.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 7, p. 888, doi. 10.1177/0883073811429859

By:

Hagebeuk, Eveline E. O.;
Bijlmer, Rob P. G. M.;
Koelman, Johannes H. T. M.;
Poll-The, Bwee Tien

Publication type:

Article

Novel Mutations in the C-Terminal Region of the MECP2 Gene in Tunisian Rett Syndrome Patients.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 5, p. 564, doi. 10.1177/0883073811420496

By:

Fendri-Kriaa, Nourhene;
Rouissi, Aida;
Ghorbel, Rania;
Mkaouar-Rebai, Emna;
Belguith, Neila;
Gouider-Khouja, Naziha;
Fakhfakh, Faiza

Publication type:

Article

Folinic Acid Supplementation in Rett Syndrome Patients Does Not Influence the Course of the Disease: A Randomized Study.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 3, p. 304, doi. 10.1177/0883073811417184

By:

Hagebeuk, Eveline E. O.;
Duran, Marinus;
Koelman, Johannes H. T. M.;
Abeling, Nicolaas G. G. M.;
Vyth, Arno;
Poll-The, Bwee-Tien

Publication type:

Article

Epilepsy Treatment in Rett Syndrome.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 11, p. 1429, doi. 10.1177/0883073811408422

By:

Krajnc, Natalija;
Župančič, Neža;
Oražem, Jasna

Publication type:

Article

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 10, p. 1237, doi. 10.1177/0883073811402688

By:

Foley, Kitty-Rose;
Downs, Jenny;
Bebbington, Ami;
Jacoby, Peter;
Girdler, Sonya;
Kaufmann, Walter E.;
Leonard, Helen

Publication type:

Article

Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 8, p. 980, doi. 10.1177/0883073811401396

By:

Fehr, Stephanie;
Bebbington, Ami;
Ellaway, Carolyn;
Rowe, Peter;
Leonard, Helen;
Downs, Jenny

Publication type:

Article

Clinical and Electroencephalographic Effects of Folinic Acid Treatment in Rett Syndrome Patients.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 6, p. 718, doi. 10.1177/0883073810390037

By:

Hagebeuk, Eveline E. O.;
Koelman, Johannes H. T. M.;
Duran, Marinus;
Abeling, Nico G.;
Vyth, Arno;
Poll-The, Bwee-Tien

Publication type:

Article

Longitudinal Hand Function in Rett Syndrome.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 3, p. 334, doi. 10.1177/0883073810381920

By:

Downs, Jennepher;
Bebbington, Ami;
Kaufmann, Walter E.;
Leonard, Helen

Publication type:

Article

Early Infantile Onset ‘‘Congenital’’ Rett Syndrome Variants: Swedish Experience Through Four Decades and Mutation Analysis.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 1, p. 65, doi. 10.1177/0883073810374125

By:

Rajaei, Saideh;
Erlandson, Anna;
Kyllerman, Marten;
Albage, Margareta;
Lundstrom, Isa;
Karrstedt, Ewa-Lotta;
Hagberg, Bengt

Publication type:

Article

Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 8, p. 1042, doi. 10.1177/0883073809356353

By:

Fendri-Kriaa, Nourhene;
Mkaouar-Rebai, Emna;
Moalla, Dorsaf;
Belguith, Neila;
Louhichi, Nacim;
Zemni, Ramzi;
Slama, Foued;
Triki, Chahnez;
Fakhfakh, Faiza

Publication type:

Article

APOE ϵ4: A Potential Modulation Factor in Rett Syndrome.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 5, p. 546, doi. 10.1177/0883073809346848

By:

Zahorakova, Daniela;
Jachymova, Marie;
Kemlink, David;
Baxova, Alice;
Martasek, Pavel

Publication type:

Article

A Study of the Treatment of Rett Syndrome With Folate and Betaine.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 5, p. 551, doi. 10.1177/0883073808327827

By:

Glaze, Daniel G.;
Percy, Alan K.;
Motil, Kathleen J.;
Lane, Jane B.;
Isaacs, Janet S.;
Schultz, Rebecca J.;
Barrish, Judy O.;
Neul, Jeffrey L.;
O'Brien, William E.;
Smith, E. O'Brian

Publication type:

Article

Rett Syndrome: Recent Research Progress.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 5, p. 543, doi. 10.1177/0883073807309786

By:

Percy, Alan K.

Publication type:

Article

Rett Syndrome: North American Database.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 12, p. 1338, doi. 10.1177/0883073807308715

By:

Percy, Alan K.;
Lane, Jane B.;
Childers, Jerry;
Skinner, Steve;
Annese, Fran;
Barrish, Judy;
Caeg, Erwin;
Glaze, Daniel G.;
MacLeod, Patrick

Publication type:

Article

Methylation Status in Females With Rett Syndrome.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 5, p. 635, doi. 10.1177/0883073807302616

By:

Freilinger, Michael;
Kalisch, David;
Muehl, Adolf;
Haas, Oskar;
Moritz, Anne;
Bodamer, Olaf

Publication type:

Article

How to Prevent Small Stature in Rett Syndrome—Associated Collapsing Spine Syndrome.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 4, p. 443, doi. 10.1177/0883073807301927

By:

Thorey, Fritz;
Jäger, Marcus;
Seller, Konrad;
Wild, Alexander;
Adam, Rüdiger A.;
Krauspe, Rüdiger

Publication type:

Article

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.

Published in:

2018

By:

Downs, Jenny;
Rodger, Jenny;
Li, Chen;
Tan, Xuesong;
Hu, Nan;
Wong, Kingsley;
de Klerk, Nicholas;
Leonard, Helen

Publication type:

journal article

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.

Published in:

2016

By:

Mangatt, Meghana;
Wong, Kingsley;
Anderson, Barbara;
Epstein, Amy;
Hodgetts, Stuart;
Leonard, Helen;
Downs, Jenny

Publication type:

journal article