Gross Motor Disability and Head Growth in Rett Syndrome - A Preliminary Report
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Abstract:
Growth of head circumference was measured in 99 RS girls and compared to gross motor function. The degree of head growth deceleration correlated to the severity of gross motor disability at 12 years of age.Keywords:
Gross motor skill
Rett Syndrome
Introduction: Rett Syndrome is a serious and global developmental disorder that affects the central nervous system. The course of this syndrome is in 4 stages. Till date, there is no cure for Rett Syndrome, so rather than addressing the syndrome as a whole, most treatments try to alleviate specific symptoms.
Materials and Methods: For the evaluation of tightness, popliteal angle and adductor angle was measured. For gross motor developmental milestones, Gross Motor Function Measure (GMFM)-88 was used. After the evaluation, goal oriented Physical Therapy was given for 45 minutes per day for 5 days per week for 6 weeks. After 6 weeks, post-intervention assessment was done using same measures.
Results: After intervention, both popliteal angle on right & left side and adductor angle was increased. The improvement was seen in scores of Gross Motor Function Measure (GMFM)-88 Dimension B, C, D and E those are Sitting, Crawling, Kneeling, Standing, Walking, Running and Jumping Component. Also the total score of Gross Motor Function Measure (GMFM)-88 was improved.
Conclusion: Physical Therapy helps the children with
Rett Syndrome
Gross motor skill
Sitting
Squatting position
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Horseback riding
Gross motor skill
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Gross motor skill
Rett Syndrome
Etiology
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Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database. Linear regression was used to assess relationships with age, genotype, and general and complex gross motor skills scores measured on the Gross Motor Scale for Rett syndrome. Skills were slightly better or maintained in approximately 40% of subjects and slightly decreased in approximately 60%. Teenagers and women who walked in 2004 were less likely to lose complex skills than those younger. Girls with a p.R294X mutation were more likely to lose complex motor skills, otherwise skill changes were spread across the mutation categories. In conclusion, small changes were observed over this period with greater stability of skills in teenagers and women with the ability to walk.
Rett Syndrome
Gross motor skill
MeCP2
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SUMMARY Forty‐four children aged 3 to 11 years with quadriplegic cerebral palsy were prospectively stratified and randomised into four treatment groups. The acquisition of motor skills was assessed in a 2 times 2 factorial design using the Gross Motor Function Measure. The two factors were conventional amounts of physiotherapy vs intensive amounts of physiotherapy, and the use of broad, generalised aims vs the use of specific measurable goals directed at motor skill acquisition. 82% of the children improved. Over the two‐week period, intensive physiotherapy produced a slightly greater effect than conventional physiotherapy but the factor more strongly associated with increased motor skill acquisition was the use of specific measurable goals. RÉSUMÉ Essai courtôléà distribution aléatoire de différentes intensityés de kinésithérapie et différentes procédures de projet chez 44 enfants LM.C. Quarante‐quatre enfants ágés de 3 a 11 ans et présentant une LM.C. quadriplégiquc furent repartis aléatoircment en quatrc groupes de traitement. Les acquisitions motrices furent évaluées selon un dessin à 2×2 facteurs, en utilisant une évaluation de la fonction motrice globale. Les deux facteurs opposaient d' une part une pratique habituclle de kinésithérapie et une pratique intensive, et d' autre part une approchc globale à des projets spécifiques el mesurables de tâches motrices. Une amélioration fut observée chez 82% des enfants. Durant la période de deux semaines, la kinésitherapie intentive obtint un peu plus d' effet que la kinésitherapie conventionnellc mais le factcur le plus fortcment associé a un progrès moteur fut le rccours à des projets spécifiques mesurables. ZUSAMMENFASSUNG Eine ruiuloinisierte koiitrollierte Studie von verschieden intensiven Pliysioihentpieprograninten und unterschiedliclien Zielselzungen bet 44 Kindem init Cerebralpare.se 44 Kinder im Alter zwischen 3 und 11 Jahren mit Tetraplcgie wurden prospekliv und randomisiert in vier Behandlungsgruppen untersucht. Das Erlemen der motorischen Fähigkeiten wurde anhand des Gross Motor Function Measure in Gcgenüberstellung von jeweils zwei Faktoren beurteilt: diese waren normale Physiotherapic versus intensive Physiotherapic und die Anwendung brciter generalisiertcr Ziele versus spczifisch meßbarcr Ziele in Bezug auf das Erlernen motorischer Fähigkeiten. 82% der Kinder zeigten eine Besscrung. Über den Zcitraum von zwei Wochen brachte die intensive Physiotherapie einen etwas besseren Erfolg als die konventionelle Physiotherapic aber die Anwendung spezifisch meßbarcr Ziele war stärker mit einer Verbesserung der motorischen Fähigkeiten assoziiert. RESUMEN Egludio controlado randoinizado de diferentes intensidudes de fisioteritpia v de diferentes objetivos en 44 niños con parcilisis cerebral Cuarenta y cuatro niños de 3 a 11 años con parálisis cerebral cuadriplégica fueron prospectivamente estratificados y randomizados en cuatro grupos terapéuticos. La adquisicion de habilidades motoras fué evaluada en un esquema dc 2×s2 factores utilizando la Gross Motor Function Measure. Los dos factores eran cantidades convencionales de fisioteapia frentc a cantidades intensivas de fisioterapia y el uso de finalidades amplias y gencralizadas, frente al uso de finalidades especiíicas medibles dirigidas a la adquisicion de habilidades motoras. El 82% de los niños mejoraron. Durante un periodo dc dos scmanas la fisioterapia intensiva produjo un efecto ligeramente mayor que la conventional, pero el factor asociado mas intensamente en la adquisicion de una mayor habilidad motor, fue el uso de finalidades especificas medibles.
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Growth of head circumference was measured in 99 RS girls and compared to gross motor function. The degree of head growth deceleration correlated to the severity of gross motor disability at 12 years of age.
Gross motor skill
Rett Syndrome
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The longitudinal development of head growth was investigated in girls with Rett syndrome. Measurements were taken retrospectively from different kinds of records. Growth retardation was expressed in standard deviation (SD) scores. In classic types, the mean head circumference fell successively to 2 SD scores below the norm at the age of 4 y. After the age of 8 y it stabilized close to –3 SD scores. The degree of deceleration correlated strongly to the age at which a deceleration of 1 SD score had occurred. In forme fruste variants, the mean head circumference was within normal limits; however, it was significantly below the norm (–0.8 SD scores). Body height deviated to –2 SD scores at the age of 6 y and was highly correlated to decline in head growth. When head growth was related to the severity of motor disability, there was a continuum from almost normal head growth with well‐preserved gross motor function and some preserved fine motor function to a marked deceleration in head growth with maximum gross and fine motor disability.
Rett Syndrome
Gross motor skill
Circumference
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Purpose: The purpose of this study was to look for physical growth and developmental retardation of the disabled children in registered educational institutions. Method: The participants in this study were 103 children. The data was collected from January to September 2006. Body weight, height and head circumference were measured and the Denver II developmental screening tool was used to measure personal-social development. Results: For 40.8% of the children body weight was less than the average for Korean children of the same age, for 49.5% height was lower than average and for 44.7% head circumference was lower. For 84.5% of the children there was a delay in personal-social development, for 87.4% a delay in fine motor-adaptive development, for 80.6% a delay in speech development and for 81.6% a delay in gross motor development. Conclusion: Based on the findings of this study, it is necessary to develop an individual developmental programs for these children based on their growth and development status.
Gross motor skill
Physical Development
Child Development
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The longitudinal development of head growth was investigated in girls with Rett syndrome. Measurements were taken retrospectively from different kinds of records. Growth retardation was expressed in standard deviation (SD) scores. In classic types, the mean head circumference fell successively to 2 SD scores below the norm at the age of 4 y. After the age of 8 y it stabilized close to -3 SD scores. The degree of deceleration correlated strongly to the age at which a deceleration of 1 SD score had occurred. In forme fruste variants, the mean head circumference was within normal limits; however, it was significantly below the norm (-0.8 SD scores). Body height deviated to -2 SD scores at the age of 6 y and was highly correlated to decline in head growth. When head growth was related to the severity of motor disability, there was a continuum from almost normal head growth with well-preserved gross motor function and some preserved fine motor function to a marked deceleration in head growth with maximum gross and fine motor disability.
Rett Syndrome
Gross motor skill
Circumference
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Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate the impact of age, genotype, scoliosis and hand stereotypies. Factor analysis enabled the calculation of general and complex gross motor skills scores. Most subjects were able to sit, slightly less than half were able to walk and a minority were able to transfer without assistance. General gross motor skills declined with age and were poorer in those who had surgically treated scoliosis but not conservatively managed scoliosis. Complex gross motor skills did not decline with age and were better in those without scoliosis. Those with a p.R133C, p.R294X, or a p.R255X mutation appear to have better motor skills overall than those with a p.R270X or large deletion mutation. Motor scores were not related to the frequency of hand stereotypies. This information is useful for the clinician and family when planning support strategies and interventions.
Rett Syndrome
Gross motor skill
Motor coordination
Movement Disorders
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