Proposal for a physical therapy program in a child with Angelman syndrome, emphasizing postural balance: a case study

Proposal for a physical therapy program in a child with Angelman syndrome, emphasizing postural balance: a case study

Propuesta de actuación fisioterapéutica en un niño con Síndrome de Angelman, enfatizando el equilibrio postural: estudio de caso.

Livia Pessarelli Visicato^I; Carolina Souza Neves da Costa^II; Oswaldo Luiz Stamato Taube^III; Ana Carolina de Campos^IV

^IMaster’s degree student at Universidade Federal de São Carlos (UFSCar), Laboratory of Analysis of Child Development – São Carlos (SP), Brazil.

^IIMaster’s degree at UFSCar, Laboratory of Analysis of Child Development – São Carlos (SP), Brazil.

^IIIMaster’s degree in Physical Therapy; Professor at Unifafibe – Bebedouro (SP), Brazil.

^IVPhD at UFSCar, Laboratory of Analysis of Child Development – São Carlos (SP), Brazil.

Correspondence to

ABSTRACT

The Angelman syndrome is characterized by neuromotor difficulties, such as ataxic gait and delayed acquisition of motor skills. However, there are few studies investigating the effect of interventions directed to this population. This study aimed to investigate the effect of a balance training in a child with Angelman syndrome. The participant was a nine-year-old girl. The training protocol was implemented during an eight-week period, twice a week, and consisted of activities involving static balance under various difficulty levels. After the training, the postural sway measured by biophotogrammetry changed from 38° to 13.78°. The scores in the Berg scale changed from 27 points to 37 points. In the Timed Up & Go test, the child’s time to complete the task changed from 15 to 12 seconds. Taken together, the results suggest that the training led to improved static and dynamic balance, as well as functional mobility.

Keywords: Angelman syndrome; rehabilitation; postural balance.

RESUMO

A síndrome de Angelman (SA) é caracterizada por alterações neuromotoras como marcha atáxica e atraso na aquisição de habilidades motoras, porém são escassos os estudos investigando o efeito de intervenções aplicadas a essa população. O objetivo do estudo foi verificar o efeito de um treino de equilíbrio em uma criança com SA. Participou do estudo uma criança de nove anos de idade com diagnóstico de SA, sexo feminino. Foi aplicado um protocolo para treino de equilíbrio por oito semanas, com frequência de duas vezes por semana. O treino consistiu em atividades envolvendo equilíbrio estático sob diversas condições de dificuldade. Após o treino, a análise de biofotogrametria computadorizada do equilíbrio estático revelou redução do grau de oscilação, que passou de 38° para 13,78°. A pontuação na escala de Berg passou de 27 pontos, na avaliação, para 37 pontos na reavaliação. No teste Timed Up & Go, a criança realizou a tarefa em 15 segundos, na avaliação, e, na reavaliação, em 12 segundos. Em conjunto, os resultados sugerem que o treino favoreceu melhora no equilíbrio estático e dinâmico, bem como na mobilidade funcional.

Descritores: síndrome de Angelman; reabilitação; equilíbrio postural.

RESUMEN

El síndrome de Angelman (SA) es caracterizado por alteraciones neuromotoras como marcha atáxica y atraso en la adquisición de habilidades motoras, pero son escasos los estudios investigando el efecto de intervenciones aplicadas a esta población. El objetivo de este estudio fue verificar el efecto de un entrenamiento del equilibrio en un niño con SA. Participó del estudio un niño de 9 años de edad con diagnóstico de SA, sexo femenino. Fue aplicado un protocolo de entrenamiento para el equilibrio por 8 semanas, con frecuencia de 2 veces por semana. El entrenamiento consistió en actividades involucrando el equilibrio estático sobre diversas condiciones de dificultad. Después del entrenamiento el análisis de biofotogrametría computarizada del equilibrio estático reveló reducción de los grados de oscilación, que pasó de 38° para 13,78°. La puntuación en la escala de Berg pasó de 27 puntos en la evaluación para 37 puntos en la reevaluación. En el test Timed up and go la niña realizó la tarea en 15 segundos en la evaluación y 12 segundos en la reevaluación. En conjunto, los resultados sugieren que el entrenamiento favoreció la mejora en el equilibrio estático y dinámico, así como de la movilidad funcional.

Palabras clave: Síndrome de Angelman; rehabilitación; equilibrio postural.

Introduction

The Angelmen Syndrome (AS) is frequently a result of deletion or rearrangement of the long arm of chromosome 15 in the 15q11-q13 region^1,2. Among the characteristics of the syndrome are optic atrophy, cerebral atrophy associated with ventricular dilatation, intellectual disability and macrostomia^3-5. Besides, other symptoms are common: delayed motor development, hyperactivity, severe compromise in language, peculiar happy behavior with unmotivated laughter, seizure, myoclonia, stereotyped upper limb movements and ataxic gait^6,7.

The ataxic gait can really affect the functionality of subjects with AS, and it is a result of cerebellar deficits in the adjustments of motor responses by means of the feedback system, as well as the force modulation and the amplitude of movements involved in the motor learning and in balance control^8,9.

Balance is the skill that maintains body orientation in relation with the external environment, and it depends on the continuous transmission of visual, somatosensory, vestibular and proprioceptive information, besides the coordination of neuromotor recruitment patterns. When this skill is compromised, the stability could be reduced, thus increasing body oscillation or changing the strategy of movement in response to disturbances^10,11.

One of the ways to practice balance is based on the destabilization of the patient so that there can be a postural adjustment, enabling the use of movement strategies in the sagittal plane (anterior posterior) and in the frontal plane (medial-lateral), in order to maintain balance in many circumstances^12,13. Besides, balance training can have additional challenges to encourage the use of the remaining vestibular information, or to make other sensory information gradually available, for instance, using different surfaces.

Rodrigues et al.¹⁴ assessed patients with demyelinating disorders and balance deficits. One group performed specific balance training and the other were submitted to general physical therapy with emphasis on strengthening and stretching, without emphasizing balance. The conclusion was that the group with specific training presented greater improvement in balance than the group with global treatment.

Studies demonstrate that the balance training applied for children with cerebral palsy¹⁵ and adults with ataxia¹⁶ — using stable surfaces, progressing for unstable ones¹⁵, and movements with varied speed and complexity¹⁶ — promote significant balance improvement¹⁵. There is still evidence that the balance training is associated with the improvement in locomotor skills in children with cerebral palsy at school age^17. Such studies show that the balance training is relevant to improve the functional development. However, no studies investigating the effect of balance training in patients with AS were found. Besides, there are only few studies that use an assessment instrument that is easy to employ in the clinical practice of physical therapists, who do not have access to complex systems for kinetic and biomechanical analyses.

Therefore, this study aims to verify the effect of balance traning on balance and on the functional mobility of a child with AS. The participant is expected to show improved static and dynamic balance, expressed by the increased score in the Pediatric Balance Scale, as well as a lower angle of postural oscillation in posturometry. Benefits for functional mobility are also expected, demonstrated by the reduced time to perform the Time Up & Go (TUG) test.

Case report

A nine-year-old female patient participated in the study. From the development history, the child presented with delayed development, being referred to genetic counseling when the clinical diagnosis of SA was concluded, in 2004. From this moment on, the child has been followed-up by a multiprofessional team, with a physical therapist, occupational therapist, phonoaudiologist and psychologist.

In the training period, the child remained on treatment with the multidisciplinary team, going through conventional therapy in a group twice a week, in 30-minute sessions.

The study was approved by the Human Research Ethics Committee from the University Center Unifafibe (protocol 0246/2010).

Instruments

TUG is a valid instrument that assesses the time spent by the subject to stand up from a chair, walk a 3 m distance, turn around, walk towards the chair and sit down again¹⁸.

The Berg Balance Scale (modified), the Pediatric Balance Scale¹⁹, is a valid instrument to assess children with motor dysfunctions and it investigates static and dynamic balance, counting on 14 items that are common to the daily life. Each item is scored according to an ordinal scale that ranges from 0 to 4 points. Points are based on how long a position can be maintained, on the distance which the upper limb can reach in front of the body and on the time to complete a task. The maximum score is 56 points¹⁹. The instrument has been through a recent cultural adaptation to be applied in Brazilian pediatric patients²⁰.

Biophotogrammetry is a method used to analyze body angles through phographic data^21,22. In this study, the method was used in association with the Romberg test, which assesses static balance with the patient standing up on a bipodal support, with open eyes and a half-open base at the same distance from the shoulder, keeping this position for 30 seconds²³. In order to evaluate body oscillations in the sagittal plane (anterior posterior sways) in the stage of interpreting the images for the posturometry analysis, a reflective adhesive was placed in the earlobe region to assess the deviations in the balance line related to the angle in relation to the plumb line. In order to perform the test, a plumb line attached to the ceiling was used and placed 30 cm away from the wall, while the digital camera used to capture the images was placed 1,5 m away from the wall and 1,28 high in relation to the ground.

The picture with major degree of body oscillation was selected. In this picture, a straight line was outlined perpendicular to the plumb line to determine the intersection point²⁴.

For the results of the computerized biophotogrammetry to be more reliable, the assessment and reassessment images were submitted to the intraobserver reliability test, in which images were assessed within a one month interval, with reliability of 0.9.

Data collection was performed before and after balance training, called, respectively, assessment and reassessment.

Intervention Protocol

Fifteen sessions of balance training were performed for an eight-week period, twice a week and lasting 50 minutes each¹⁶.

The balance training was performed by means of eight activities, counting on different support bases and using sensory and motor strategies (Chart 1). The protocol used in this study was adapted from Alegretti et al.¹⁵.

Results

According to the Berg scale, at the initial evaluation the patient presented less than 4 points in all the tasks, with more difficulty in the items “remain supported with one foot to the front”, “remain on a bipodal support”, “turning to look back” and “reaching an object ahead”, in which the score was 0. At reassessment, the child presented changes in 9 items, out of the 14 items, as demonstrated in Table 1.

In the TUG test, the child performed the task in 15 seconds during assessment. At reassessment, performed after the physical therapy intervention, the task was performed in 12 seconds.

According to the analyses performed through biophotogrammetry, at the assessment a 38º anterior posterior sway was observed, and at reassessment, the calculated sway was of 13.78º.

Discussion

The study aimed to analyze the effect of the physical therapy treatment with emphasis on the balance training of a child with AS during a two-month period.

At the initial evaluation, the child presented lower score in relation to the highest score in the Berg scale in all of the assessed items. The TUG evaluation also showed a worse than expected performance for the age group (15 seconds), since the mean expected for children aged between three and nine years is 5.9 seconds (ranging from 3 to 13 seconds)²⁵. Finally, posturography showed major body oscillation, demonstrating imbalance. Such results, altogether, point to postural control and balance deficit, which justify the application of a protocol emphasizing this aspect.

After the application of the physical therapy intervention program, it was possible to observe changes in performance according to the Berg scale in items related to postural transfer and tasks of static balance. This result suggests that even though intervention was focused on static balance, it was possible to improve dynamic balance. Such improvement is relevant for the participant’s performance, since the deficits in static and dynamic balance in subjects with ataxia have been related with higher risk of falling down²⁶.

There is evidence in literature showing that the physical therapy intervention leads to the improvement in static and dynamic balance of subjects with ataxia, demonstrated by the increased score in items performed on foot and without support in a patient with ataxia, and such improvement enables the better functional performance^27,28. Likewise, the balance training on different support bases, employed on patients with vestibular changes, improves dynamic and static balance²⁹, which corroborates this study. However, the effect of the intervention in children with AS, who not only present with ataxia, but also intellectual disability and balance changes, had not been assessed in previous studies. Therefore, the results in this study suggest it is possible to improve the static and dynamic balance of subjects with AS.

The decreased time of execution of TUG demonstrates the improvement in dynamic balance, suggesting that balance training can favor functional mobility. The shorter time to execute TUG corresponds to lower risk of falls¹⁸, which is extremely important in order for the child to participate in socially relevant activities. In a prior study by Campos et al.³⁰, it was observed that this test reliably measures the changes that come with intervention, with the advantage to be easily employed in the clinical practice. Alegretti et al.¹⁵ observed that balance training benefits children with cerebral palsy, with reduced time to perform the test, improved balance and reduced frequency of falls. The findings in these studies support the findings in the child with AS, since the physical therapy protocol is similar to that proposed by Alegretti et al.¹⁵, with similar results.

According to biophotogrammetry, the child presented reduced child oscillation after the employment of the intervention protocol, which indicated improvement in the static balance. Similarly, balance training reduced the body oscillation assessed by means of the force platform in children at school age with hemiplegic cerebral palsy¹⁷. Computerized biophotogrammetry was used to check static balance in children and adolescents with Down syndrome in comparison to children without disorders, and balance was assessed with eyes open and closed. This instrument proved to be reliable and easy to be employed for physical therapy evaluation, analyzing the frontal and sagittal plane displacement²⁴. In this study, computerized biophotogrammetry also proved to be capable of measuring changes in the static balance of a child with AS. The only study assessing patients with ataxia by menas of biophotogrammetry demonstrated that the training in a vibrating platform reduces the patients’ oscillations, but only in dynamic situations³¹. Even though this result is slightly different from this study, such difference can be due to the characteristics of the clinical picture and the different types of training.

Possible mechanisms to explain the observed changes include the improvement of directional specificity of the activated muscles facing external stimulation, as well as the improvement in spatial or temporal characteristics of muscle responses, such as faster response, lower agonist-antagonist coactivation and better modulation of amplitudes of contraction^32,33. The integration of somatosensory, vestibular and visual stimuli seems to be adequate to minimize the insufficient balance in patients with AS. Besides, the balance disturbance generates external stimulation, facilitating the motor signals created in cortical motor centers and the brain trunk, adapting the muscle tonus during movements and enabling postural adjustment^28,34. So, such aspects were considered for the elaboration of the training proposed for the child with AS and showed satisfactory results.

Conclusion

Even though it is limited to one case report, this study demonstrated the improvement in static and dynamic balance after specific training for a child with AS. Both the employed training protocol and the used instruments of assessment are easily accessible and applicable, therefore being relevant for the clinical practice of physical therapists.

Acknowledgements

The authors thank the Institution Apae, from Bebedouro, for the collaboration to perform this study.

References

• 1. Baraitiser W, Winter RM. Atlas colorido de síndromes da malformação congênita. São Paulo: Manole; 1998.
• 2. Thomson AK, Glasson EJ, Bittles TH. A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003. Dis Rehab. 2006;28:299-305.
• 3. Fridman C. Aspectos clínicos da Síndrome de Angelman Síndrome de Prader-Willi e Síndrome de Angelman: imprinting genômico na espécie humana. In: Sociedade Brasileira de Genética. (Org.). Série Monografias. 5. ed. Ribeirão Preto: Sociedade Brasileira de Genética; 1997. p. 15-20.
• 4. Pallares JA, Gasca CB, Vila EG, Feliubadaló MG, Sanchez CC. Aspectos médicos y conductuales del síndrome de Angelman. Rev Neurol. 2005;41(11):649-56.
• 5. Martin C, Moreno MC, De Los Rios JM, Téles MC, Temprano MD, Garcia G, Uberuaga M, Domingo R. Tratamiento dental de um niño con síndrome de Angelman: a propósito de un caso. Cientif Dent. 2010;7(1):61-4.
• 6. Veiga MF, Torales MPT. A expressão neurológica e o diagnóstico genético nas síndromes de Angelman, de Rett e do X Frágil. JPed. 2002;78(1):55-62.
• 7. Cerda MM, Gago RB. Características clínicas de dos probables casos de síndrome de Angelman en el Hospital Nacional de Niños. Acta Med Costarric. 2004;46(2):88-90.
• 8. Kelly PJ, Stein J, Shafgat S, Eskey C, Doherty C, Chang Y, Kurina A, Furie KL. Functional recovery after rehabilitation for cerebellar stroke. Stroke. 2001;32:530-4.
• 9. Delboni CC, Santos MC, Asola G. Terapia ocupacional na ataxia cerebelar e o recurso da tecnologia assistiva. Mundo Saúde. 2006;30(1):175-8.
• 10. Barela JA. Estratégias de controle em movimentos complexos: ciclo percepção-ação no controle postural. Rev Paul Ed Fís. 2000; 3:79-88.
• 11. Navarro AS, Fukujima MM, Fontes SV, Matas SLA, Prado GF. Balance and motor coordination are not fully developed in 7 years old blind children. Arq Neuropsiquiatr. 2004;63(3):654-7.
• 12. Ekman LL. Neurociência- fundamentos para reabilitação. Rio de Janeiro: Guanabara Koogan; 2000.
• 13. Shumway-Cook A, Woollacott MH. Controle motor teoria e aplicações praticas. 2. ed. São Paulo: Manole; 2003.
• 14. Rodrigues IF, Nielson MBP, Marinho AR. Avaliação da fisioterapia sobre o equilíbrio e a qualidade de vida em pacientes com esclerose múltipla. Rev Neurociencs. 2008;16(4):269-74.
• 15. Alegretti KMG, Kanashiro MS, Monteiro VC, Borges HS, Fontes SV. Os efeitos do treino de equilíbrio em crianças com paralisia cerebral diparética espástica. Rev Neurocienc. 2007;15(2):108-13.
• 16. Gonçalvez MH, Souza VO, Goulart DGB. Análise e treinamento de equilíbrio de portadores de ataxia cerebelar e sensitiva através do cybex reactor: estudo de caso. In: Encontro Latino-Americano De Iniciação Científica, 13, e Encontro Latino-Americano De Pós-Graduação, 9. Universidade do Vale do Paraíba, Vale do Paraíba.
• 17. Ledebt A, Becher J, Kapper J, Rozendaal RM, Bakker R, Leenders IC, et al. Balance training with visual feedback in children with hemiplegic cerebral palsy: effect on stance and gait. Motor Control. 2005;9:459-68.
• 18. Podsiadlo D, Richardson S. The Timed Up & Go: a test of basic functional mobility for frail elderly persons. J Am Ger Soc. 1991;39:142-8.
• 19. Franjoine MR, Gunther JS, Taylor MJ. Pediatric balance scale: a modified version of the Berg Balance Scale for the school-age child with mild to moderate motor impairment. Ped PhysTher. 2003;15(2):114-28
• 20. Ries LGK, Michaelsen SM, Soares PSA, Monteiro VC, Allegretti KMG. Adaptação cultural e análise da confiabilidade da versão brasileira da Escala de Equilíbrio Pediátrica (EEP). Rev Bras Fisoter. 2012;16(3):205-15.
• 21. Baraúna MA, Adorno MLGR. Avaliação cinesiológica das curvaturas lombar e torácica das gestantes através do cifolordômetro e da fotogrametria computadorizada e sua correlação com a dor lombar. Fisioter Bras. 2001;2(3):145-55.
• 22. Barreto RR. Avaliação da postura corporal de indivíduos portadores de deficiência visual, através da biofotogrametria computadorizada [dissertação de mestrado]. Uberlândia: Centro Universitário do Triângulo; 2003.
• 23. Cipriano JJ. Manual fotográfico de testes ortopédicos e neurológicos. 4. ed. São Paulo: Manole; 2005.
• 24. Meneguetti CHZ, Assis BSM, Doloroso FT, Rodrigues GM. Avaliação do equilíbrio estático de crianças e adolescentes com síndrome de Down. Rev Bras Fisioter. 2009;13(3):230-235.
• 25. Williams EN, Garroll SG, Reddihougth DS, Phillips BA, Galea MP. Intevestigation of the timed Up & Go test in children. DevMed& Child Neurol. 2005;47(8):518-24.
• 26. Leonard MM, Lopes GJ, Bezerra PP, Borges APO. Impacto do desequilíbrio estático e dinâmico no risco de quedas em indivíduos com ataxia espinocerebelar. Rev Neuroci. 2009;17(2):178-82.
• 27. Missaoui B, Thoumie P. How far do patients with sensory ataxia benefit from so-called "proprioceptive rehabilitation"?. Clin Neurophys. 2009;39:229-33.
• 28. Oliveira APR, Freitas AM. Efeitos da intervenção fisioterapêutica nas habilidades funcionais e no equilíbrio de uma paciente com ataxia espinocerebelar: estudo de caso. Fisioter Pesq. 2006;13(3):43-7.
• 29. Mazzucato A, Borges APO. Influência da reabilitação vestibular em indivíduos com desequilíbrio postural. Rev Neurocienc. 2009;17(2):183-8.
• 30. De Campos AC, Costa CSN, Rocha NACF. Measuring changes in functional mobility in children with mild cerebral palsy. Dev Neurorehab. 2011;14(3):140-4.
• 31. Nardone A, Grasso M, Schieppati M. Balance control inperipheral neuropathy: are patients equally unstable understatic and dynamic conditions?. Gait Posture. 2006;23(3):364-73.
• 32. Toledo DR, Barela JA. Sensory and motor differences between young and older adults: somatosensory contribution to postural control. Rev Bras Fisioter. 2010;14(3):267-74.
• 33. Pérennou D, Decavel P, Manckoundia P, Mourey F, Maunay F, Ptitzenmeyer P, et al. Evaluation of balance in neurologic and geriatric disorders. Ann Readapt Med Phys 2005;48(6):317-35.
• 34. Wollacott M, Shumway-Cook A, Ciol M, Price R, Kartin D. Effect of balance training on muscle activity used in recovery of stability in children with cerebral palsy: a pilot study. Dev Med & Child Neurol. 2005;47:455-61.

Publication Dates

• Publication in this collection
  21 May 2013
• Date of issue
  Mar 2013

History

• Received
  July 2012
• Accepted
  Jan 2013