Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

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Highlights

► The emergence of first gestures in girls with RTT is not necessarily delayed. ► The repertoire of communicative gestures, however, is restricted. ► Although girls with RTT have difficulties in their verbal communicative domain, gestures do not constitute a compensatory mechanism. ► A limited repertoire of gestures and qualitative peculiarities in other speech-language domains might be characteristic for a severe neurodevelopmental disorder like RTT.

Abstract

We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from a retrospective analysis of a video footage. Gestures were classified as deictic gestures, play schemes, and representational gestures. Results of the analysis showed that the majority of gestures observed were of deictic character. There were no gestures that could be classified as play schemes and only two (e.g., head nodding and waving bye bye) that were coded as representational or symbolic gestures. The overall repertoire of gestures, even though not necessarily delayed in it's onset, was characterized by little variability and a restricted pragmatic functionality. We conclude that the gestural abilities in girls with RTT appear to remain limited and do not constitute a compensatory mechanism for the verbal language modality.

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Ruthie Amir, Ignatia B Van den Veyver, Mimi Wan … (1999)

Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an incidence of 1 in 10,000-15,000 (ref. 2). Patients with classic RTT appear to develop normally until 6-18 months of age, then gradually lose speech and purposeful hand use, and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. As RTT occurs almost exclusively in females, it has been proposed that RTT is caused by an X-linked dominant mutation with lethality in hemizygous males. Previous exclusion mapping studies using RTT families mapped the locus to Xq28 (refs 6,9,10,11). Using a systematic gene screening approach, we have identified mutations in the gene (MECP2 ) encoding X-linked methyl-CpG-binding protein 2 (MeCP2) as the cause of some cases of RTT. MeCP2 selectively binds CpG dinucleotides in the mammalian genome and mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A (refs 12,13). In 5 of 21 sporadic patients, we found 3 de novo missense mutations in the region encoding the highly conserved methyl-binding domain (MBD) as well as a de novo frameshift and a de novo nonsense mutation, both of which disrupt the transcription repression domain (TRD). In two affected half-sisters of a RTT family, we found segregation of an additional missense mutation not detected in their obligate carrier mother. This suggests that the mother is a germline mosaic for this mutation. Our study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.

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Rett syndrome: revised diagnostic criteria and nomenclature.

Jeffrey Neul, Walter Kaufmann, Daniel G. Glaze … (2010)

Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT. The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed. These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.

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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

B Hagberg, J Aicardi, K Dias … (1983)

Thirty-five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one-and-a-half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.

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Author and article information

Journal

Journal ID (nlm-ta): Res Dev Disabil

Journal ID (iso-abbrev): Res Dev Disabil

Title: Research in Developmental Disabilities

Publisher: Pergamon Press

ISSN (Print): 0891-4222

ISSN (Electronic): 1873-3379

Publication date PMC-release: November 2012

Publication date (Print): November 2012

Volume: 33

Issue: 6

Pages: 1715-1721

Affiliations

[a ]Institute of Physiology (Developmental Physiology and Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria

[b ]Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

[c ]Victoria University of Wellington, New Zealand

[d ]Children's Hospital Boston, Harvard Medical School, Boston, MA, USA

[e ]Department of Linguistics, Karl-Franzens University of Graz, Austria

Author notes

[* ]Corresponding author at: Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, 8010 Graz, Austria. Tel.: +43 316 380 4266; fax: +43 316 380 9630. peter.marschik@ 123456medunigraz.at

Article

Publisher ID: RIDD1565

DOI: 10.1016/j.ridd.2012.05.014

PMC ID: 3445810

PubMed ID: 22699245

SO-VID: 28e0d948-9939-47da-a8ef-2ef944ede76a

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History

Date received : 14 May 2012

Date accepted : 18 May 2012

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Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

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Most cited references 77

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Rett syndrome: revised diagnostic criteria and nomenclature.

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

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