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Atypical Rett syndrome

MedGen UID:
440664
•Concept ID:
C2748910
•
Disease or Syndrome
Synonym: Rett like syndrome
SNOMED CT: Atypical Rett syndrome (718393002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
Autosomal dominant inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017746
OMIM®: 300005; 312750
Orphanet: ORPHA3095

Definition

A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the ''forme fruste'' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical Rett syndrome

Professional guidelines

PubMed

Does genotype predict phenotype in Rett syndrome?
Ham AL, Kumar A, Deeter R, Schanen NC
J Child Neurol 2005 Sep;20(9):768-78. doi: 10.1177/08830738050200091301. PMID: 16225834

Recent clinical studies

Etiology

Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
Motil KJ, Geerts S, Annese F, Neul JL, Benke T, Marsh E, Lieberman D, Skinner SA, Glaze DG, Heydemann P, Beisang A, Standridge S, Ryther R, Lane JB, Edwards L, Percy AK
J Pediatr 2022 May;244:169-177.e3. Epub 2022 Jan 19 doi: 10.1016/j.jpeds.2022.01.009. PMID: 35063470Free PMC Article
Caregiver- and Clinician-Reported Adaptive Functioning in Rett Syndrome: a Systematic Review and Evaluation of Measurement Strategies.
Semmel ES, Fox ME, Na SD, Kautiainen R, Latzman RD, King TZ
Neuropsychol Rev 2019 Dec;29(4):465-483. Epub 2019 Nov 20 doi: 10.1007/s11065-019-09420-9. PMID: 31748842
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG
Brain 2017 Feb;140(2):306-318. Epub 2016 Dec 21 doi: 10.1093/brain/aww302. PMID: 28007990Free PMC Article
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A
Am J Med Genet A 2015 Sep;167A(9):2017-25. Epub 2015 Apr 25 doi: 10.1002/ajmg.a.37132. PMID: 25914188Free PMC Article
Does genotype predict phenotype in Rett syndrome?
Ham AL, Kumar A, Deeter R, Schanen NC
J Child Neurol 2005 Sep;20(9):768-78. doi: 10.1177/08830738050200091301. PMID: 16225834

Diagnosis

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
Currò A, Doddato G, Bruttini M, Zollino M, Marangi G, Zappella M, Renieri A, Pinto AM
Eur J Med Genet 2021 Jan;64(1):104102. Epub 2020 Nov 18 doi: 10.1016/j.ejmg.2020.104102. PMID: 33220470
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG
Brain 2017 Feb;140(2):306-318. Epub 2016 Dec 21 doi: 10.1093/brain/aww302. PMID: 28007990Free PMC Article
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A
Am J Med Genet A 2015 Sep;167A(9):2017-25. Epub 2015 Apr 25 doi: 10.1002/ajmg.a.37132. PMID: 25914188Free PMC Article
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
Guerrini R, Parrini E
Epilepsia 2012 Dec;53(12):2067-78. Epub 2012 Sep 21 doi: 10.1111/j.1528-1167.2012.03656.x. PMID: 22998673
Rett syndrome: North American database.
Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P
J Child Neurol 2007 Dec;22(12):1338-41. doi: 10.1177/0883073807308715. PMID: 18174548

Therapy

A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.
Christianto A, Katayama S, Kameshita I, Inazu T
Clin Chim Acta 2016 Aug 1;459:132-136. Epub 2016 Jun 2 doi: 10.1016/j.cca.2016.06.003. PMID: 27265524
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, Ohmori I, Ohtsuka Y, Kuwajima K, Endo S, Iwai T, Yamagata H, Tabara Y, Miki T, Matsuishi T, Kondo I
Brain Dev 2005 Apr;27(3):211-7. doi: 10.1016/j.braindev.2004.06.003. PMID: 15737703
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.
Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M, Riikonen R, Peltonen L, Järvelä I
Neurology 2001 Mar 13;56(5):611-7. doi: 10.1212/wnl.56.5.611. PMID: 11245712

Prognosis

Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers.
Ronen GM, Brady LI, Tarnopolsky MA
Pediatr Neurol 2017 Feb;67:98-101. Epub 2016 Oct 25 doi: 10.1016/j.pediatrneurol.2016.10.012. PMID: 28089766
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG
Brain 2017 Feb;140(2):306-318. Epub 2016 Dec 21 doi: 10.1093/brain/aww302. PMID: 28007990Free PMC Article
The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.
Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK
Pediatr Neurol 2015 Nov;53(5):402-11. Epub 2015 Jun 26 doi: 10.1016/j.pediatrneurol.2015.06.003. PMID: 26278631Free PMC Article
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L
Neurogenetics 2009 Jul;10(3):241-50. Epub 2009 Feb 25 doi: 10.1007/s10048-009-0177-1. PMID: 19241098
Does genotype predict phenotype in Rett syndrome?
Ham AL, Kumar A, Deeter R, Schanen NC
J Child Neurol 2005 Sep;20(9):768-78. doi: 10.1177/08830738050200091301. PMID: 16225834

Clinical prediction guides

Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
Motil KJ, Geerts S, Annese F, Neul JL, Benke T, Marsh E, Lieberman D, Skinner SA, Glaze DG, Heydemann P, Beisang A, Standridge S, Ryther R, Lane JB, Edwards L, Percy AK
J Pediatr 2022 May;244:169-177.e3. Epub 2022 Jan 19 doi: 10.1016/j.jpeds.2022.01.009. PMID: 35063470Free PMC Article
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C, Fusco C, Pisani F
Genes (Basel) 2021 Jul 28;12(8) doi: 10.3390/genes12081157. PMID: 34440332Free PMC Article
Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation.
Harada K, Yamamoto M, Konishi Y, Koyano K, Takahashi S, Namba M, Kusaka T
Brain Dev 2018 Jan;40(1):49-52. Epub 2017 Aug 7 doi: 10.1016/j.braindev.2017.07.007. PMID: 28781028
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG
Brain 2017 Feb;140(2):306-318. Epub 2016 Dec 21 doi: 10.1093/brain/aww302. PMID: 28007990Free PMC Article
Does genotype predict phenotype in Rett syndrome?
Ham AL, Kumar A, Deeter R, Schanen NC
J Child Neurol 2005 Sep;20(9):768-78. doi: 10.1177/08830738050200091301. PMID: 16225834

Recent systematic reviews

Caregiver- and Clinician-Reported Adaptive Functioning in Rett Syndrome: a Systematic Review and Evaluation of Measurement Strategies.
Semmel ES, Fox ME, Na SD, Kautiainen R, Latzman RD, King TZ
Neuropsychol Rev 2019 Dec;29(4):465-483. Epub 2019 Nov 20 doi: 10.1007/s11065-019-09420-9. PMID: 31748842

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