Gait Initiation in Children with Rett Syndrome

Isaias, Ioannis U.; Dipaola, Mariangela; Michi, Marlies; Marzegan, Alberto; Volkmann, Jens; Roidi, Marina Luisa Rodocanachi; Frigo, C.; Cavallari, Paolo

doi:10.1371/journal.pone.0092736

Cited by 32 publications

(24 citation statements)

References 31 publications

(43 reference statements)

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“…A systematic survey by Ledebt et al (1998) [15] showed that APAs start developing at 2-3 years of age but complete their maturation well after the age of 8, a result in line with the observations carried out on toddlers up to 5 years old children [16] and in 4-6 years old children [17]. Another interesting study was published by Isaias et al (2014) [18], who analyzed SOL and TA in 10 ± 3 years-old children and reported inhibition-excitation patterns like in adults, but with a lower time interval between SOL inhibition and TA excitation.…”

Section: Introductionsupporting

confidence: 72%

Postural Control in Children with Cerebellar Ataxia

et al. 2020

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Controlling posture, i.e., governing the ensemble of involuntary muscular activities that manage body equilibrium, represents a demanding function in which the cerebellum plays a key role. Postural activities are particularly important during gait initiation when passing from quiet standing to locomotion. Indeed, several studies used such motor task for evaluating pathological conditions, including cerebellar disorders. The linkage between cerebellum maturation and the development of postural control has received less attention. Therefore, we evaluated postural control during quiet standing and gait initiation in children affected by a slow progressive generalized cerebellar atrophy (SlowP) or non-progressive vermian hypoplasia (Joubert syndrome, NonP), compared to that of healthy children (H). Despite the similar clinical evaluation of motor impairments in NonP and SlowP, only SlowP showed a less stable quiet standing and a shorter and slower first step than H. Moreover, a descriptive analysis of lower limb and back muscle activities suggested a more severe timing disruption in SlowP. Such differences might stem from the extent of cerebellar damage. However, literature reports that during childhood, neural plasticity of intact brain areas could compensate for cerebellar agenesis. We thus proposed that the difference might stem from disease progression, which contrasts the consolidation of compensatory strategies.

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Section: Introductionsupporting

confidence: 72%

Postural Control in Children with Cerebellar Ataxia

et al. 2020

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“…El RTT es una enfermedad compleja y de difícil diagnóstico debido a la gran variedad de manifestaciones clínicas que puede generar y su rara presentación en la población. Ya que no se encontraron caracterizaciones moleculares en Latinoamérica y las series de casos reportadas en la literatura internacional suelen poseer pocas participantes y diferentes mutaciones, no es posible confirmar la relación directa de una mutación con determinada presentación clínica (5,71,72). Teniendo eso en cuenta, se resumen las características de las pacientes y sus diagnósticos moleculares en la tabla 4 y se comparan con las descritas por mutaciones en las bases de datos de LOVD, RettBASE, Francia y Estados Unidos (27,60).…”

Section: Discussionunclassified

Síndrome de Rett: revisión de la literatura con primeros casos reportados en Colombia con caracterización clínica y molecular

Hernández-Flórez

Contreras-García

2018

Acta Neurol Colomb

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Síndrome de Rett: revisión de la literatura con primeros casos reportados en Colombia con caracterización clínica y molecular Rett syndrome: review of the literature and first cases reported in Colombia with clinical characterization and molecular diagnosis Cristhian Eduardo Hernández-Flórez (1), Gustavo Adolfo Contreras-García (2) RESUMEN IntroduccIón: el síndrome de Rett es una condición neurológica severa y la segunda causa genética de retraso mental profundo en mujeres. Se genera por mutaciones en el gen MECP2 y es caracterizada por una pérdida de las ganancias psicomotoras, con una prevalencia general estimada de 1:10.000 niñas, según la extrapolación de algunos estudios europeos. objetIvos: realizar una revisión de la literatura sobre el síndrome de Rett y presentar una serie de casos diagnosticados en Colombia por clínica y prueba molecular. Metodología: se efectuó una búsqueda bibliográfica y de reportes de casos en 21 bases de datos internacionales, más de 14 revistas del área de la salud y dos motores de búsqueda generales entre 2014 y 2016. Los casos presentados fueron seleccionados de la consulta de genética médica realizada por los autores. Hallazgos: no se encontró ningún caso colombiano de síndrome de Rett, ni confirmado con prueba molecular en Latinoamérica. Se reporta así la primera serie de casos nacional y la mayor latinoamericana, conformada por siete pacientes con tipo clásico y tres atípicos, todas con diagnóstico molecular. conclusIones: pese a tener una evolución clínica caracterizada, su baja prevalencia y amplio espectro clínico convierten al síndrome de Rett en un reto diagnóstico y terapéutico. La mutación c.749_750insT se reporta por primera vez, la c.473C>G por segunda en la literatura y la c.763C>T se presenta en dos pacientes con fenotipos totalmente distintos, lo que confirma la no correlación genotipo-fenotipo de la enfermedad. PALABRAS CLAVES: síndrome de Rett, discapacidad intelectual, MECP2, prevalencia, Colombia (DeCS). contrIbucIón de los autores Cristhian Eduardo Hernández-Flórez, búsqueda bibliográfica y en bases de datos generales, redacción de introducción, contexto histórico, epidemiología, caracterización clínica y manejo, apoyo en consulta médica y redacción de los casos presentados y discusión. Gustavo Adolfo Contreras-García, búsqueda bibliográfica y en bases de datos genéticas, redacción de diagnóstico molecular, genetista tratante de los casos presentados y apoyo en su redacción, búsqueda de información adicional y consentimientos informados, verificación del contenido del artículo, redacción de la discusión. SUMMARY IntroductIon: Rett Syndrome is a severe neurological condition and the second genetic cause of profound mental retardation in women. It is generated by mutations in the MECP2 gene and it is characterized by a loss Recibido 4/12/16. Aceptado: 30/10/17.

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“…There is also a correlation between the presence of scoliosis and walking impairment; in the study by Downs et al, scoliosis had been diagnosed in 86% of females who were unable to walk. Even when present, walking shows some peculiar patterns due to ataxia, lack of core stability, and lack of feed‐forward control of movement at gait initiation . Longitudinal studies evaluating motor development in RTT mainly use questionnaires and analysis of videotapes.…”

mentioning

confidence: 99%

“…Even when present, walking shows some peculiar patterns due to ataxia, lack of core stability, and lack of feed-forward control of movement at gait initiation. 9 Longitudinal studies evaluating motor development in RTT mainly use questionnaires and analysis of videotapes. Video-recorded sessions assessed by expert clinicians are not easily available, owing to the rarity of the disease and the geographical dispersion of patients.…”

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confidence: 99%

Motor function in Rett syndrome: comparing clinical and parental assessments

Roidi

Isaias

Cozzi

et al. 2018

Develop Med Child Neuro

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Aim To describe a new clinical tool, the Rett Syndrome Motor Evaluation Scale (RESMES) and to assess (loco‐)motor function in people with Rett syndrome (RTT). Method Formal assessment provided by physicians was followed by parents’ direct observation at home using the RESMES. Sixty females (mean [SD] age 12y 5mo [8y 9mo], range 3–40y) with a clinical diagnosis and genetically determined RTT participated in the study. Spearman's/Pearson's coefficients assessed the correlation between the clinicians’ and caregivers’ evaluations, as well as the correlation of RESMES scores with other scales, namely the Pain Assessment in Advanced Dementia, the Rett Assessment Rating Scale, the Modified Ashworth Scale, and hand function (assessed with a scale of evaluation of purposeful hand function). Scores provided by parents and clinicians were tested statistically by Mann–Whitney U test. Results Approximately 88% of patients had moderate to severe RTT symptoms and, on average, moderate motor impairment based on the RESMES. RESMES total scores provided by clinicians and caregivers were highly correlated (r=0.91), as were the subscale scores. Postural transition was a critical area of the RESMES, where parents systematically provided lower scores than clinicians, indicating milder degrees of disability. Severity of scoliosis and mutation type emerged as significant predictors of motor function. Interpretation The RESMES characterized the (loco‐)motor impairments of the patients with RTT well. It also showed a close correlation between the evaluations of clinicians and caregivers, with the possible exception of postural transition tasks, which should be carefully addressed in a clinical setting. The type of mutation and presence of scoliosis should be evaluated, as they predicted the ability to walk. What this paper adds Caregivers at home can reliably assess motor function in Rett syndrome using the Rett Syndrome Motor Evaluation Scale (RESMES). RESMES scores provided by clinicians and parents were highly correlated. The severity of scoliosis and the genetic mutation predicted standing and walking abilities.

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Gait Initiation in Children with Rett Syndrome

Cited by 32 publications

References 31 publications

Postural Control in Children with Cerebellar Ataxia

Postural Control in Children with Cerebellar Ataxia

Síndrome de Rett: revisión de la literatura con primeros casos reportados en Colombia con caracterización clínica y molecular

Motor function in Rett syndrome: comparing clinical and parental assessments

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