Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Renieri, Alessandra; Mari, Francesca; Mencarelli, Maria Antonietta; Scala, Elisa; Ariani, Francesca; Longo, Ilaria; Meloni, Ilaria; Cevenini, Gabriele; Pini, Giorgio; Hayek, Joussef; Zappella, Michele

doi:10.1016/j.braindev.2008.04.007

Cited by 86 publications

(91 citation statements)

References 25 publications

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“…Girls affected by Rett syndrome appear to develop normally in the first six months of life, after which characteristic signs of the condition occur, including regression of communication and hand skills, the appearance of hand stereotypies and impaired gait. Eye gazing is used commonly as a means of communication [21] although some girls do retain the ability to use words following the regression period [22]. A video study using Australian population-based data (n=144) has found hand function skills ranging from no functional hand use in approximately one third to a similar proportion being able to pick up small objects [23].…”

Section: Introductionmentioning

confidence: 99%

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Lim

Downs

et al. 2012

Disability and Rehabilitation

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Implications for rehabilitation Little is known about the lives of girls with Rett syndrome in China, a genetic condition associated with severe disability.  Most girls experienced home-based care with limited access to appropriate equipment, education and rehabilitation.  Limited information and discrimination and stigma from some community members reduced families' abilities to meet their child's needs.  Greater access to health, education and information services in China should be supported.

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Section: Introductionmentioning

confidence: 99%

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Lim

Downs

et al. 2012

Disability and Rehabilitation

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“…Lexicon size and syntactic complexity are reported to increase slowly, but are usually accompanied by features such as echolalia, peculiar prosody, or limited pragmatic functions. [3][4][5] Our own studies have contributed to the delineation of early signs of classic RTT and PSV before the onset of regression, focusing on abnormalities of the early spontaneous motor repertoire and behavioural peculiarities such as the early onset of hand stereotypies.6-8 As part of an interdisciplinary approach, we searched for further early developmental deviations and thereby focused on another key clinical feature in RTT, the speech-language domain. In classic RTT and its variants, the partial or complete loss of acquired spoken language is one of the main inclusion criteria.…”

mentioning

confidence: 99%

Early speech–language development in females with Rett syndrome: focusing on the preserved speech variant

Marschik

Pini

Bartl-Pokorny

et al. 2012

Develop Med Child Neuro

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ABBREVIATIONSPSV Preserved speech variant RTT Rett syndrome AIM Our aim was to contribute new findings related to the pre-regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech-language development of females who are considered to have preserved some speech-language abilities.METHOD We analysed 461 minutes of audio-video recordings containing play situations and the daily routines of six females (aged 7 to 24 months; mean birthweight 3057g, SD 195g) with the preserved speech variant (PSV) of RTT. All videos were recorded by parents and analysed retrospectively after the diagnosis PSV was made.RESULTS From the age of 7 months onwards, we observed two types of vocalizations, appearing intermittently: (1) apparently normal sequences; and (2) atypical (i.e. inhalatory, pressed, or high-pitched crying-like) vocalizations. Some participants failed to reach the milestone of canonical babbling. We observed a limited phonological and lexical complexity and a restricted compositional variability. Volubility was reduced during the whole period under observation. Hand stereotypies with simultaneous atypical vocalizations appeared only during the second year of life. INTERPRETATIONThe intermittent character of normal versus abnormal verbal behaviours might contribute to an early identification of children with a possible genetic mutation, and provides evidence that speech-language functions are abnormal from the very beginning.Rett syndrome (RTT, MIM 312750), a profoundly disabling neurodevelopmental disorder that predominantly occurs in females, is mainly caused by mutations in the gene MECP2 for the methyl-CpG-binding protein 2 (Xq28).1 It is assumed that MeCP2, a regulator of neuronal activity-dependent synaptic maturation, plays a central role in postnatal brain development. Disruption of MeCP2 affects a wide range of neurodevelopmental functions such as cognitive processes, purposeful hand use, and communicative abilities.2 The pathogenesis of RTT is characterized by a four-stage trajectory, the second of which is the regression period, in which the clinical signs become more prominent.1 The trajectory can be observed in females with classic RTT as well as in other variants of RTT, of which the so-called preserved speech variant (PSV) or Zappella variant (Z-RTT) has a more benign overall pathogenesis, including better manual and speech-language abilities. 1,3,4 Females with PSV have the same staging and a number of the same symptoms as in classic RTT (e.g. the characteristic hand stereotypies) but usually show no general growth failure or deceleration of head growth; epilepsy and hyperventilation are rare.3-5 Furthermore, individuals with PSV show a postregressional improvement in hand use; language abilities may be regained or preserved. Lexicon size and syntactic complexity are reported to increase slowly, but are usually accompanied by features such as e...

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“…É possível, no entanto, efetuar comparação entre alguns itens que foram investigados nesta série de 64 pacientes com outros, de casos previamente relatados. 14 , das oito meninas avaliadas, quatro apresentavam algum tipo de comunicação e uma tinha comunicação verbal funcional -a comunicação verbal efetiva é considerada como uma variação diagnóstica rara e atípica na SR 27 . A habilidade funcional que se mostrou mais preservada na SR foi a mobilidade.…”

Section: Análise Dos Dadosunclassified

Caracterização das habilidades funcionais na síndrome de Rett

et al. 2009

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O objetivo deste estudo foi identificar as áreas de maior comprometimento nas habilidades funcionais na síndrome de Rett (SR). Foram avaliadas 64 pacientes que preenchiam os critérios para a forma clássica da doença, com idade entre 2 e 26 anos. Foi aplicado o Inventário de avaliação pediátrica de incapacidade (PEDI) que contém 197 itens nas áreas de autocuidado, mobilidade e função social. Dentre as 73 atividades da área de autocuidado, 52 (71,2%) não foram realizadas por qualquer paciente; na mobilidade, dentre as 59 atividades propostas, 8 (13,5%); e na área de função social, dentre as 65 atividades, 50 (76,9%) não foram realizadas por paciente alguma. O desempenho médio ajustado em escala de 0 a 100 para a área de autocuidado foi de 8,9/100, variando de 0 a 19; na área de mobilidade, foi de 30,2/100, variando de 1 a 44; e na de função social, 5,2/100, com variação de 0 a 14. Foi possível verificar fortes correlações entre a área de autocuidado e as de mobilidade e função social; no entanto, entre as áreas de mobilidade e função social não foi detectada correlação significativa. Infelizmente, devido à gravidade da síndrome, o menor comprometimento da mobilidade, comparado ao das áreas de autocuidado e função social, não traz vantagens adaptativas ou maior independência às pacientes com SR.

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Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Cited by 86 publications

References 25 publications

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Early speech–language development in females with Rett syndrome: focusing on the preserved speech variant

Caracterização das habilidades funcionais na síndrome de Rett

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