Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).

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PMID (PMCID)
29534967	FEMALE
	Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome.
	Hirofuji S, Hirofuji Y, Kato H, Masuda K, Yamaza H, Sato H, Takayama F, Torio M, Sakai Y, Ohga S, Taguchi T, Nonaka K. Biochem Biophys Res Commun. 2018;498(4):898-904.
	Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism.
28093677	FEMALE
	Communication Intervention for Young Children with Severe Neurodevelopmental Disabilities Via Telehealth.
	Simacek J, Dimian AF, McComas JJ. J Autism Dev Disord. 2017;47(3):744-767.
	Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments.
24328834	FEMALE
	Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
	Venkateswaran S, McMillan HJ, Doja A, Humphreys P. Dev Med Child Neurol. 2014;56(1):91-4.
	In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males.
22909152 (3506511)	MIXED_SAMPLE	Child
	A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.
	Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X. BMC Med Genet. 2012;13:75.
	One such gene is the transcription factor MECP2, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism.
24278834 (3833508)	OTHER
	Autism spectrum disorders.
	Fitzgerald K, Hyman M, Swift K. Glob Adv Health Med. 2012;1(4):62-74.
	ASDs include autism, pervasive developmental disorder-not otherwise specified (PDD-NOS), Rett syndrome and Asperger disorder.
19752159	FEMALE	Child
	Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
	Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. J Med Genet. 2010;47(3):211-6.
	No mutations were identified in the Rett syndrome and autism spectrum disorders cohorts suggesting that despite sharing similar clinical characteristics with EFMR, PCDH19 mutations are not generally associated with these disorders.
19752159	FEMALE	Child
	Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
	Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. J Med Genet. 2010;47(3):211-6.
	We analysed 185 females from three cohorts: 42 with Rett syndrome who were negative for MECP2 and CDKL5 mutations, 57 with autism spectrum disorders, and 86 with epilepsy with or without intellectual disability.
14986829	FEMALE
	Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.
	Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A. Clin Genet. 2003;64(6):497-501.
	We present here a unique case of a 14-year-old female with autism and some features similar to Rett syndrome (RTT).
11473472	FEMALE	Adult
	Colonic lymphoid hyperplasia in melanosis coli.
	Pearce CB, Martin H, Duncan HD, Goggin PM, Poller DN. Arch Pathol Lab Med. 2001;125(8):1110-2.
	We describe the case of a patient with Rett syndrome, a syndrome characterized by progressive infant encephalopathy, developmental delay, dementia, autism, ataxia, microcephaly, spastic paraparesis, and autonomic neuropathy with constipation.
11738856	FEMALE	Adult
	Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome.
	Gotoh H, Suzuki I, Maruki K, Mitomo M, Hirasawa K, Sasaki N. Brain Dev. 2001;23 Suppl 1:S118-21.
	To clarify magnetic resonance imaging (MRI) findings in three adult patients with Rett syndrome who had been diagnosed with mental retardation and autism.
10737989	FEMALE
	Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
	Kim SJ, Cook EH Jr. Hum Mutat. 2000;15(4):382-3.
	Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations.
2758549	FEMALE
	Anaesthesia and Rett syndrome: a case report.
	Maguire D, Bachman C. Can J Anaesth. 1989;36(4):478-81.
	Rett syndrome is a neurological disorder of females characterized by dementia, autism, movement disorders and an abnormality of respiratory control.
2606884	MALE	Child
	The borderland of autism and Rett syndrome: five case histories to highlight diagnostic difficulties.
	Gillberg C. J Autism Dev Disord. 1989;19(4):545-59.
	The borderland of autism and Rett syndrome: five case histories to highlight diagnostic difficulties.
3657039	FEMALE
	[Rett syndrome--case report].
	Glaser D, Marx H, Pawlowitzki IH. Klin Padiatr. 1987;199(4):307-8.
	We report on a 13 years old girl with Rett syndrome (autism, dementia, ataxia and loss of purposeful hand use in girls).