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Journal articles on the topic 'Atypical Rett Syndrome form'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Kochański, Bartosz, Anna Plaskiewicz, Krystian Kałużny, et al. "Atypical Rett syndrome form – case study = Nietypowa postać zespółu Retta – opis przypadku." Journal of Education, Health and Sport 5, no. 2 (2015): 173–78. https://doi.org/10.5281/zenodo.15846.

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<strong>Kochański Bartosz, Plaskiewicz Anna, Kałużny Krystian, Pawlicka Aleksandra, Smuczyński Wojciech, Hagner‑Derengowska Magdalena, Zukow Walery, Hagner Wojciech. Atypical Rett syndrome form – case study = Nietypowa postać zespółu Retta – opis przypadku. </strong><strong>Journal of Education, Health and Sport. </strong><strong>2015;5(2):173-178. </strong><strong>ISSN 2391-8306</strong><strong>. </strong><strong>DOI: 10.5281/zenodo.15846</strong> <strong>http://ojs.ukw.edu.pl/index.php/johs/article/view/2015%3B5%282%29%3A173-178</strong> <strong>https://pbn.nauka.gov.

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2

Pozzi, Cristina M., and Sergio Rosemberg. "Rett syndrome: clinical and epidemiological aspects in a Brazilian institution." Arquivos de Neuro-Psiquiatria 61, no. 4 (2003): 909–15. http://dx.doi.org/10.1590/s0004-282x2003000600004.

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Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend - learning, hand use and speech - leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 2

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3

Haas, Richard H., and Seth Love. "Peripheral Nerve Findings in Rett Syndrome." Journal of Child Neurology 3, no. 1_suppl (1988): S25—S30. http://dx.doi.org/10.1177/0883073888003001s06.

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Sural nerve and peroneus brevis muscle biopsies were studied in 12 patients with Rett syndrome, ten with the typical form of the disorder according to 1985 criteria, and two with atypical features. Ages ranged from 23 months to 25 years. All stages of the disease were represented. There was evidence of a mild axonal neuropathy in seven of 12 patients. Degenerative and occasional regenerative changes were seen in five sural nerve biopsies, including one from the youngest patient in the series, who was normally nourished and fully ambulatory. Occasional nonspecific ultrastructural abnormalities

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4

Orimoto, K., T. Matsuishi, and K. Yuge. "An atypical form of RETT syndrome (RTT) patient exhibited dystonia and characteristic psychological/behavioral dysfunctions." Journal of the Neurological Sciences 381 (October 2017): 459. http://dx.doi.org/10.1016/j.jns.2017.08.3505.

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5

Nectoux, J., D. Heron, M. Tallot, J. Chelly, and T. Bienvenu. "Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome." Clinical Genetics 70, no. 1 (2006): 29–33. http://dx.doi.org/10.1111/j.1399-0004.2006.00629.x.

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6

Halushko, Oleksandr, and Maryana Bolyuk. "Acute Coronary Syndrome in Patients with Diabetes mellitus: Features of the Course and Manifestations of Pain Syndrome." Family Medicine, no. 1-2 (April 29, 2022): 13–18. https://doi.org/10.30841/2307-5112.1-2.2022.260497.

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Acute coronary syndrome (ACS) remains a common cause of hospitalization for patients with diabetes mellitus (DM). Due to development of diabetic neuropathy, it is believed that this category of patients is characterized by a high frequency of atypical acute coronary syndrome, but data on this are quite contradictory. <strong>The objective:</strong> to determine the features of the pain syndrome and its severity in patients with acute coronary syndrome and concomitant diabetes. <strong>Materials and methods.</strong> The study involved 36 patients with diabetes (22 men and 14 women) a

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7

Athira T. Sasidharan, Dileep KS, and PV Giri. "An Ayurvedic Approach in Improving the Quality of Life in Atypical Parkinsonism - A Case Report." Journal of Ayurveda and Integrated Medical Sciences 9, no. 11 (2025): 283–89. https://doi.org/10.21760/jaims.9.11.40.

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Atypical parkinsonism is another form of parkinsonism, which is having a more widespread pathology than seen in Parkinson’s disease. A group of neurodegenerative conditions including Multiple system atrophy (MSA), Progressive supranuclear palsy (PSP), and Corticobasal syndrome (CBS) constitute this form of parkinsonism. Due to the widespread pathology including degeneration of striatum, globus pallidus, cerebellum, and brainstem, as well as the SNc, the clinical features tend to resemble to that of Parkinson’s disease, but different manifestations are seen. Early involvement of speech and gait

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8

Goutières, Françoise, Jean Aicardi, John M. Opitz, and James F. Reynolds. "Atypical forms of rett syndrome." American Journal of Medical Genetics 25, S1 (1986): 183–94. http://dx.doi.org/10.1002/ajmg.1320250521.

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9

Epperson, Madison V., Michael E. Haws, Shannon M. Standridge, and Donald L. Gilbert. "An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A." Journal of Child Neurology 33, no. 4 (2018): 286–89. http://dx.doi.org/10.1177/0883073818754987.

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Background: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, ab

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10

Boliuk, Mariana, and Oleksandr Halushko. "Acute coronary syndrome in elderly and senile diabetic patients." issue 2 2024, no. 2 2024 (May 2, 2024): 66–72. http://dx.doi.org/10.47855/jal9020-2024-5-8.

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Acute coronary syndrome (ACS) remains a common cause of hospitalization in diabetes mellitus (DM) patients. It is believed that diabetic neuropathy patients have a high atypical course incidence of acute coronary syndrome, because of the frequent neuropathy development in diabetes patients, but the data on this are quite contradictory. Aim: The study aimed to determine the features of the pain syndrome and its severity in ACS and concomitant diabetes patients. Materials and Methods: The study involved 36 diabetes patients (22 men and 14 women) aged 62-86 years, hospitalized urgently for ACS. P

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11

Rice, Marylynne A., and Richard H. Haas. "The Nutritional Aspects of Rett Syndrome." Journal of Child Neurology 3, no. 1_suppl (1988): S35—S42. http://dx.doi.org/10.1177/0883073888003001s08.

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Nutrition is a major problem for the Rett patient. We have studied 21 girls with Rett syndrome (19 typical, two atypical). We report our experience in this population with the nutritional aspects of Rett syndrome, the typical dietary habits, and various nutritional deficiencies. Further experience with the use of high fat diets is reported. (J Child Neurol 1988;3(Suppl):S35-S42).

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12

Halushko, Oleksandr, and Maryana Bolyuk. "Acute Coronary Syndrome in Patients with Diabetes mellitus: Features of the Course and Manifestations of Pain Syndrome." Family Medicine, no. 1-2 (April 29, 2022): 13–18. http://dx.doi.org/10.30841/2307-5112.1-2.2022.260497.

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Acute coronary syndrome (ACS) remains a common cause of hospitalization for patients with diabetes mellitus (DM). Due to development of diabetic neuropathy, it is believed that this category of patients is characterized by a high frequency of atypical acute coronary syndrome, but data on this are quite contradictory. The objective: to determine the features of the pain syndrome and its severity in patients with acute coronary syndrome and concomitant diabetes. Materials and methods. The study involved 36 patients with diabetes (22 men and 14 women) aged 44–86 years, hospitalized urgently for A

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13

Aydın, Hilal, Nimet Kabakuş, and Mustafa Erkoçoğlu. "Association of Atypical Rett Syndrome and Autism." Sakarya Medical Journal 5, no. 4 (2015): 228–31. http://dx.doi.org/10.5505/sakaryamedj.2015.08760.

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14

Vasiliki,, Chini, Zakaria Elsayed,, and Jamil Alami. "Atypical Rett syndrome diagnosis by molecular testing." Qatar Foundation Annual Research Forum Proceedings, no. 2010 (December 13, 2010): BMP28. http://dx.doi.org/10.5339/qfarf.2010.bmp28.

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15

Bouzroud, Wafaa, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, and Hind Dehbi. "R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report." Clinical Pathology 15 (January 2022): 2632010X2211242. http://dx.doi.org/10.1177/2632010x221124269.

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Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features. The Rett syndrome is associated with a broad phenotypic spectrum. It ranges from a classical Rett syndrome defined by well-established criteria to atypical cases with symptoms similar to other syndromes, such as Angelman syndrome. The first case of a Moroccan female child carrying a R306X mutation in the MECP2 (Methyl-CpG-Binding Protein 2) gene, with an unusual manifestation of R

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16

Fontanesi, John, and Richard H. Haas. "Cognitive Profile of Rett Syndrome." Journal of Child Neurology 3, no. 1_suppl (1988): S20—S24. http://dx.doi.org/10.1177/0883073888003001s05.

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We report preliminary studies in 18 girls with Rett syndrome (15 typical, three atypical cases) who were studied using a number of neuropsychologic measures. Results indicate a relative preservation of gross motor and daily living skills at the developmental level of the age of onset of the condition. Other adaptive functions were more depressed. Higher levels of object permanency were found in this population than reported previously. Our results indicate that islands of motor and intellectual function persist in Rett syndrome patients. These data may be useful for therapeutic intervention. (

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17

Halushko, Oleksandr, and Mariana Boliuk. "Features of the course of acute coronary syndrome in patients with diabetes." Diabetes Obesity Metabolic Syndrome, no. 5 (2022): 23–29. http://dx.doi.org/10.57105/2415-7252-2022-5-02.

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Acute coronary syndrome (ACS) remains a common cause of hospitalization for patients with diabetes mellitus (DM). Due to the frequent development of diabetic neuropathy, it is believed that this category of patients is characterized by a high frequency of atypical acute coronary syndrome, but data on this are quite contradictory. The objective. To determine the features of the clinical course and manifestations of pain syndrome in patients with ACS with accompanying diabetes. Materials and methods. The study involved 36 patients with diabetes (22 men and 14 women) aged 44-86 years, hospitalize

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18

Sheen, Volney, Isaac M. Valencia, and Alcy R. Torres. "Atypical Features in MECP2 P152R–Associated Rett Syndrome." Pediatric Neurology 49, no. 2 (2013): 124–26. http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.037.

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19

Gonzalez, Joseph Nicho, Sylvie Goldman, Melissa T. Carter, and Jennifer M. Bain. "Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder." Genes 14, no. 6 (2023): 1154. http://dx.doi.org/10.3390/genes14061154.

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Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. Classic Rett Syndrome presents in early childhood with a period of developmental regression, loss of purposeful hand skills along with hand stereotypies, gait abnormalities, and loss of acquired speech. Atypical RTT is diagnosed when a child shows some but not all the phenotypes of classic RTT, along with additional supporting criteria. Over 95% of classic RTT cases are attributed to pathogenic variants in Methyl-CpG Binding Protein 2 (MECP2), though additional genes have been implic

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20

Frullanti, Elisa, Filomena T. Papa, Elisa Grillo, et al. "Analysis of the Phenotypes in the Rett Networked Database." International Journal of Genomics 2019 (March 27, 2019): 1–9. http://dx.doi.org/10.1155/2019/6956934.

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Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1 mutations have been reported in Rett patients, especially with the atypical presentation. Each gene and different mutations within each gene contribute to variability in clinical presentation, and several groups worldwide performed genotype-phenotype correlation studies using cohorts of patients with classic and atypical forms of Rett spectrum disorder. The Rett Networked Database is a unified regis

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21

Crisp, Sarah J., Esther Meyer, Allison Gregory, et al. "WDR45Mutation in Atypical Rett Syndrome with Brain Iron Accumulation." Movement Disorders Clinical Practice 2, no. 1 (2015): 81–83. http://dx.doi.org/10.1002/mdc3.12120.

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22

Cogliati, Francesca, Valentina Giorgini, Maura Masciadri, et al. "Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes." International Journal of Molecular Sciences 20, no. 15 (2019): 3621. http://dx.doi.org/10.3390/ijms20153621.

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Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a MECP2 pathogenic variant in 95% of cases, from atypical girls, 40–73% carrying MECP2 variants, and rarely CDKL5 and FOXG1 alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspecte

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23

Akesson, H. O., B. Hagberg, and J. Wahlstrom. "Rett syndrome, classical and atypical: genealogical support for common origin." Journal of Medical Genetics 33, no. 9 (1996): 764–66. http://dx.doi.org/10.1136/jmg.33.9.764.

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24

Kyriakopoulos, Paulina, Vanda McNiven, Melissa T. Carter, Peter Humphreys, David Dyment, and Tadeu A. Fantaneanu. "Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation." Child Neurology Open 5 (January 1, 2018): 2329048X1878794. http://dx.doi.org/10.1177/2329048x18787946.

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25

Schanen, Carolyn, Elisa J. F. Houwink, Naghmeh Dorrani, et al. "Phenotypic manifestations ofMECP2 mutations in classical and atypical rett syndrome." American Journal of Medical Genetics 126A, no. 2 (2004): 129–40. http://dx.doi.org/10.1002/ajmg.a.20571.

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26

Yagi, Kazuichi. "The pathophysiology of Lennox-Gastaut syndrome – a review of clinico-electrophysiological studies." Journal of Epileptology 23, no. 1 (2015): 7–23. http://dx.doi.org/10.1515/joepi-2015-0021.

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SUMMARYIntroduction.Lennox-Gastaut syndrome (LGS) is a type of therapy-resistant epileptic syndrome. Since the establishment of our Epilepsy Center in 1975 we have performed many studies to assess the clinical symptoms, seizure manifestations, sleep and long-term follow-up of the clinical course and changes on electroencephalographs (EEGs) in patients with LGS.Aim.To review the updated pathophysiology of LGS based on our own clinico-electrophysiological data referring to recent advances in brain research.Methods.All of our previously published and unpublished data were reviewed in order to inv

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27

Boliuk, M. V., and O. A. Halushko. "The features of the pain syndrome in diabetic patients with myocardial infarction." EMERGENCY MEDICINE 17, no. 2 (2021): 72–78. http://dx.doi.org/10.22141/2224-0586.17.2.2021.230651.

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Background. Due to the frequent development of neuropathy in diabetic patients, it is believed that this category of patients is characterized by a high incidence of atypical acute coronary syndrome, but data about this are quite contradictory. The purpose of the study was to determine pain syndrome features and its severity in patients with acute coronary syndrome and diabetes mellitus. Materials and methods. The study involved 24 patients with diabetes (19 men and 5 women) aged 45–83 years, hospitalized urgently for the acute coronary syndrome. Assessment of pain syndrome was performed at th

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28

Spagnoli, Carlotta, Carlo Fusco, and Francesco Pisani. "Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review." Genes 12, no. 8 (2021): 1157. http://dx.doi.org/10.3390/genes12081157.

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Introduction: Progress in the clinical application of next-generation-sequencing-based techniques has resulted in a dramatic increase in the recognized genetic heterogeneity of the Rett syndrome spectrum (RSS). Our awareness of the considerable overlap with pediatric-onset epilepsies and epileptic/developmental encephalopathies (EE/DE) genes is also growing, and the presence of variable clinical features inside a general frame of commonalities has drawn renewed attention into deep phenotyping. Methods: We decided to review the medical literature on atypical Rett syndrome and “Rett-like” phenot

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29

Inui, Koji, Motohiro Akagi, Jiro Ono, et al. "Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome." Brain and Development 23, no. 4 (2001): 212–15. http://dx.doi.org/10.1016/s0387-7604(01)00197-8.

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30

Harada, Kotoha, Mayumi Yamamoto, Yukihiko Konishi, et al. "Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation." Brain and Development 40, no. 1 (2018): 49–52. http://dx.doi.org/10.1016/j.braindev.2017.07.007.

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31

Temudo, Teresa, Paula Freitas, Jorge Sequeiros, Patricia Maciel, and Guiomar Oliveira. "Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case." Movement Disorders 23, no. 4 (2008): 622–24. http://dx.doi.org/10.1002/mds.21939.

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32

Záhoráková, Daniela, M. Langová, K. Brožová, et al. "Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy." Folia Biologica 62, no. 2 (2016): 67–74. http://dx.doi.org/10.14712/fb2016062020067.

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The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental delay, intractable epilepsy, and Rett-like features. A clear genotype-phenotype correlation has not been established due to an insufficient number of reported cases. The aim of this study was to analyse t

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33

Vorsanova, S. G., Yu B. Yurov, V. Yu Voinova, and I. Yu Yurov. "Rett syndrome in Russia and abroad: a scientific historical review." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 3 (2020): 25–31. http://dx.doi.org/10.21508/1027-4065-2020-65-3-25-31.

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This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and determine the direction of modern studies. The presentations made at the symposium helped to form a global concept of the molecular and cellular mechanisms of Rett syndrome and a number of rare genetic/genomic diseases. The article presents a number of domestic findings in the field of Rett syndrome and

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34

Drobchak, M., and N. Kech. "Neurodevelopmental Disorders in Children with Hereditary Diseases (Review of Literature, Clinical Case Report)." Lviv Clinical Bulletin, no. 2 (46) (June 28, 2024): 56–62. http://dx.doi.org/10.25040/lkv2024.02.056.

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Introduction. The majority of studies on disturbed neurodevelopment in children focus on psychiatric or psychological-pedagogical issues, but the genetic component of pathology also occupies an important place, in which is important to conduct genetic investigation to verify hereditary pathology, and to identify target organs inherent in particular hereditary disease. The aim of the study. To conduct a review of current literature dedicated to the problem of impaired neurodevelopment in children with hereditary diseases, to describe a clinical case of A. Rett genetic syndrome, accompanied by i

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35

Byun, Christine K., Jin Sook Lee, Byung Chan Lim, Ki Joong Kim, Yong Seung Hwang, and Jong-Hee Chae. "FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome." Child Neurology Open 2, no. 1 (2015): 2329048X1456815. http://dx.doi.org/10.1177/2329048x14568151.

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36

Pardal-Fernández, J. M., P. Jerez-García, I. Onsurbe-Ramírez, and J. Marco-Giner. "Rett syndrome: a case presenting with atypical seizures. Neurophysiological and clinical aspects." Neurophysiologie Clinique/Clinical Neurophysiology 34, no. 1 (2004): 49–57. http://dx.doi.org/10.1016/j.neucli.2003.08.003.

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37

Goutières, Françoise, and Jean Aicardi. "New experience with rett syndrome in france: The problem of atypical cases." Brain and Development 9, no. 5 (1987): 502–5. http://dx.doi.org/10.1016/s0387-7604(87)80073-6.

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38

Marschik, Peter B., Christa Einspieler, Andreas Oberle, Franco Laccone, and Heinz F. R. Prechtl. "Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome." Journal of Autism and Developmental Disorders 39, no. 6 (2009): 958–61. http://dx.doi.org/10.1007/s10803-009-0703-x.

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39

Christianto, Antonius, Syouichi Katayama, Isamu Kameshita, and Tetsuya Inazu. "A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome." Clinica Chimica Acta 459 (August 2016): 132–36. http://dx.doi.org/10.1016/j.cca.2016.06.003.

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40

Iwama, Kazuhiro, Takeshi Mizuguchi, Eri Takeshita, et al. "Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing." Journal of Medical Genetics 56, no. 6 (2019): 396–407. http://dx.doi.org/10.1136/jmedgenet-2018-105775.

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BackgroundRett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (MECP2). Our objective to investigate the genetic landscape of MECP2-negative typical/atypical RTT and RTT-like phenotypes using whole exome sequencing (WES).MethodsWe performed WES on 77 MECP2-negative patients either with typical RTT (n=11), atypical RTT (n=22) or RTT-like phenotypes (n=44) incompatible with the RTT criteria.ResultsPathogenic or likely pathogenic single-nucleotid

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41

Tang, Xin, Julie Kim, Li Zhou, et al. "KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome." Proceedings of the National Academy of Sciences 113, no. 3 (2016): 751–56. http://dx.doi.org/10.1073/pnas.1524013113.

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Rett syndrome is a severe form of autism spectrum disorder, mainly caused by mutations of a single gene methyl CpG binding protein 2 (MeCP2) on the X chromosome. Patients with Rett syndrome exhibit a period of normal development followed by regression of brain function and the emergence of autistic behaviors. However, the mechanism behind the delayed onset of symptoms is largely unknown. Here we demonstrate that neuron-specific K+-Cl− cotransporter2 (KCC2) is a critical downstream gene target of MeCP2. We found that human neurons differentiated from induced pluripotent stem cells from patients

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42

Bardhan, Mainak, Kiran Polavarapu, Nandeesh N. Bevinahalli, et al. "Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome." Journal of Human Genetics 66, no. 8 (2021): 813–23. http://dx.doi.org/10.1038/s10038-021-00913-1.

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43

Volgina, S. Ya. "Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 61, no. 5 (2016): 179–82. http://dx.doi.org/10.21508/1027-4065-2016-61-5-179-182.

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44

Haidar, Zahraa, Nadine Jalkh, Sandra Corbani, et al. "A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome." Movement Disorders 35, no. 5 (2020): 896–99. http://dx.doi.org/10.1002/mds.28023.

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45

Gustavsson, Peter, Eva Kimber, Jan Wahlstr�m, and G�ran Anner�n. "Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)." American Journal of Medical Genetics 82, no. 4 (1999): 348–51. http://dx.doi.org/10.1002/(sici)1096-8628(19990212)82:4<348::aid-ajmg14>3.0.co;2-2.

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46

Figuera, Luis E., F. Javier Jimenez-Gil, M. Olga García-Cruz, and José M. Cantú. "Schwartz-Jampel syndrome: An atypical form?" American Journal of Medical Genetics 47, no. 4 (1993): 526–28. http://dx.doi.org/10.1002/ajmg.1320470416.

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47

Matson, Johnny L., Timothy Dempsey, and Jonathan Wilkins. "Rett syndrome in adults with severe intellectual disability: Exploration of behavioral characteristics." European Psychiatry 23, no. 6 (2008): 460–65. http://dx.doi.org/10.1016/j.eurpsy.2007.11.008.

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AbstractRett syndrome is a genetically linked form of autism spectrum disorder (ASD) accompanied by intellectual disability (ID). The disorder is also characterized by cardiorespiratory dysregulation, disturbance in muscle tone, reduced brain growth and scoliosis. Over 300 studies have been published on the disorder, most of which has focused on identification of causative factors, which appears to be the result of mutations of gene MECP2. Rarely have adults with Rett syndrome been studied, and behavioral characteristics in these individuals are largely unknown. The present study aimed to exte

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Choszczyk, Katarzyna. "Functioning of the family of a child with Rett syndrome with particular emphasis onthe role of alternative communication (AAC) – an individual case study." Special School LXXXIV, no. 3 (2023): 219–31. http://dx.doi.org/10.5604/01.3001.0053.8981.

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The article presents the functioning of a child’s family with Rett syndrome. The mainfocus is on the role of augmentative and alternative communication (AAC) as a methodfor communication with a child who has no developed verbal communication skills. Thiswas done on the basis of an individual case study of a child with Rett syndrome and hisfamily. The conducted research shows that alternative communication in the form of PCS(Picture Communication Symbols) and Makaton gestures significantly improved communicationwith the child.

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Bardhan, Mainak, Kiran Polavarapu, Nandeesh N. Bevinahalli, et al. "Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome." Journal of Human Genetics 66, no. 8 (2021): 841. http://dx.doi.org/10.1038/s10038-021-00920-2.

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Sysoeva, Olga, Sophie Molholm, Aleksandra Djukic, Hans-Peter Frey, and John J. Foxe. "Atypical Processing of Tones and Phonemes in Rett Syndrome: An Auditory Evoked Potential Study." Biological Psychiatry 87, no. 9 (2020): S144—S145. http://dx.doi.org/10.1016/j.biopsych.2020.02.385.

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