EFFECT OF COGNITIVE REHABILITATION ON HAND FUNCTION IN CHILDREN WITH DOWN'S SYNDROME
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1 EFFECT OF COGNITIVE REHABILITATION ON HAND FUNCTION IN CHILDREN WITH DOWN'S SYNDROME BY EMAN MOHAMMAD KAMAR EL DAWLAH EL SAYED B.SC. in physical therapy Thesis Submitted in Partial Fulfillment for Requirement Master Degree in Physical Therapy Prof. Dr. Manal Salah El Dein Assistant professor, Department of Growth and Developmental Disorders in Children and its Surgery. Faculty of Physical Therapy. Cairo University Supervisors Prof. Dr. Ihab Ragaa Abdel Raouf Professor of Clinical Genetics and Pediatrics National Research Center Dr. Shorouk Ahmed Wagdy El Shennawy Lecturer Department of Growth and Developmental Disorders in Children and its Surgery. Faculty of Physical Therapy Cairo University Faculty of Physical Therapy Cairo University 2012
2 ACKNOWLEDGEMENT First and foremost, thanks to Allah, the most gracious, the most merciful. I am greatly honored to express my deepest gratitude, respect and sincere appreciation to Prof. Dr. Manal Salah El-Dein, Assistant professor of physical therapy for Growth and Developmental Disorder in children and its surgery. Faculty of Physical Therapy, Cairo University, for her valuable supervision, continuous support, constructive criticism and useful advices. My grateful and cardinal thanks to Prof. Dr. Ihab Ragaa Abdel Raouf professor of genetics and clinical pediatrics for his efforts and valuable assistance that helped me to complete this work. Also I would like to express my deepest thanks to, Dr. Shorouk El- Shennawy, lecturer in department of Growth and Developmental Disorders in children and its surgery Faculty of Physical Therapy, Cairo University, for her continuous support, encouragement and advices to accomplish this work. I am deeply thankful to all children participated in this study and their families for accepting participating in this piece of work. I am most grateful to my parents and my brothers for inspiring me and teaching me so much to finish my work honestly. No words could express my jovial appreciation and admiration to my husband Mohsen Ali and his kind tolerance and efforts for helping me to get this work into light. Eman Mohammad kamar El-dawlah 2012
3 Effect of Cognitive Rehabilitation On Hand Function In Children With Down's syndrome / Eman Mohammad Kamar El- Dawlah El-Sayed; supervisors: Prof. Dr. Manal Salah El Dein, Faculty of Physical Therapy, Cairo University. Prof. Dr. Ihab Ragaa Abdel Raouf National Research Center. Dr. Shorouk Ahmed Wagdy El-Shennawy Faculty of Physical Therapy, Cairo University. 2012, (Master Thesis). ABSTRACT The purpose of the study was to investigate the effect of cognitive rehabilitation on hand function in children with Down syndrome. Twenty six children with Down syndrome with age ranged from 7 to 10 years participated in this study. They were evaluated using Reha-Com system and Peabody Developmental Motor Scale before and after treatment programs. Subjects were classified into two groups of equal numbers. Group A; received hand function training program, whereas group B, received the same program for group A, in addition to attention and concentration training using Reha-Com system. Concerned all variables used for evaluation, the results of this study revealed non significant difference between the two groups before treatment. While after the suggested treatment program, significant difference was revealed between the two groups in favor of the study group B. According to the results of this study it can be concluded that, cognitive rehabilitation has a positive effect on hand function in children with Down syndrome. Key words: Cognition, Hand function, Down syndrome.
4 List of Tables Table page Table (1) Grades of modified functional scale of reaching 60 Table (2) Shows Score of Peabody Developmental Motor scale 68 Table (3) Mean values of age variable in both groups 83 Table (4) Sex distribution in both groups. 84 Table (5) Table (6) Table (7) Table (8) Table (9) Table (10) Table (11) Table (12) Table (13) Comparison between the mean values of IQ of the two groups Comparison between the mean values of level measured pre- and post-treatment between the two groups. Comparison between the mean values of maximum reaction time measured pre- and post-treatment between the two groups. Comparison between the mean values of median reaction time measured pre- and post-treatment between the two groups. Comparison between the mean values of minimum reaction time measured pre- and post-treatment between the two groups. Comparison between the mean values of standard score of grasping measured pre- and post-treatment between the two groups Comparison between the mean values of standard score of visual motor integration measured pre- and post-treatment between the two groups Comparison between the mean values of fine motor quotient measured pre- and post-treatment between the two groups. Comparison between the mean values of level measured pre- and post-treatment in the two groups
5 Table Table (14) Table (15) Table (16) Table (17) Table (18) Table (19) Comparison between the mean values of maximum reaction time measured pre- and post-treatment in the two groups Comparison between the mean values of median reaction time measured pre- and post-treatment in the two groups. Comparison between the mean values of minimum reaction time measured pre- and post-treatment in the two groups. Comparison between the mean values of standard score of grasping measured pre- and post-treatment in the two groups. Comparison between the mean values of standard score of visual motor integration measured pre- and post-treatment in the two groups. Comparison between the mean values of fine motor quotient measured pre- and post-treatment in the two groups page
6 Figure Figure (1) List of Figures Numbers of cell's chromosomes in Down syndrome page 11 Figure (2) Features of Down syndrome child 14 Figure (3) Computer- based cognitive rehabilitation device (Reha-Com system) Figure(4a,b) Tools used for hand function evaluation and treatment 59 Figure (5) Child sitting in front of the screen 61 Figure(6) Reha-com matching 1 of 3 pictures (1 by 3 matrix), 64 Figure(7) Reha-com matching 1 of 6 pictures (2 by 3 matrix) 64 Figure(8) Reha-com matching 1 of 9 pictures (3 by 3 matrix) 64 Figure(9) The Child Grasping a Cube 70 Figure(10) The Child transferring a Cube 71 Figure(11) The Child placing Cubes Figure(12) The Child Crumpling the Paper 72 Figure(13) The Child Turning Pages 72 Figure(14) The Child Tapping With a Spoon 73 Figure(15) The Child building ladder 73 Figure(16) The Child removing and placing pegs 75 Figure(17) The Child Inserting Shapes 76
7 List of Figures Figure(18) The child Drawing Vertical and Horizontal lines 76 Figure(19) The Child building Tower 77 Figure(20) The child arranging balls into columns 77 Figure(21) The child cutting out the Square 78 Figure(22) Green Sign Correct Answer 81 Figure(23) Red Sign Incorrect Answer 81 Figure(24) Mean values of age in both groups. 83 Figure(25) Sex distribution in both groups. 84 Figure(26) Mean values of IQ of the two groups. 85 Figure(27) Mean values of level of attention and concentration pre- and post-treatment between 87 the two groups. Figure(28) Mean values of maximum reaction time measured pre- and post-treatment between the 88 two groups. Figure(29) Mean values of median reaction time measured pre- and post treatment between the two groups. 89 Figure(30) Mean values of minimum reaction time measured pre- and post-treatment between both groups. 90 Figure(31) Mean values of standard score of grasping measured pre- and post-treatment between the 91 both groups. Figure(32) Mean values of standard score of visual motor integration measured pre- and post-treatment 93 between the both groups. Figure(33) Mean values of fine motor quotient measured pre- and post-treatment between the two groups. 94 Figure(34) Mean values of level of attention and concentration pre- and post-treatment in the both 96 groups. Figure(35) Mean values of maximum reaction time measured pre- and post-treatment in the both 97 groups. Figure(36) Mean values of median reaction time measured pre- and post-treatment in the both groups. 99 Figure(37) Mean values of minimum reaction time measured pre- and post-treatment in both groups. 100 Figure(38) Mean values of standard score of grasping measured pre- and post-treatment in the both groups 101
8 Figure(39) Figure(40) Mean values of standard score visual motor integration measured pre- and post-treatment in the both groups. Mean values of fine motor quotient measured pre- and post-treatment in the both groups
9 List of abbreviations Abbreviation CPU DS FMQ GI GMQ GR IQ Max. RT Med. RT MFRS Millisec. Min. Min. RT N NS PDMS-2 SD TMQ VMI Name Central Processing Unit Down Syndrome Fine Motor Quotient Gastrointestinal Gross Motor Quotient Group Intelligence Quotient Maximum Reaction Time Median Reaction Time Modified Functional Reaching Scale Millisecond Minute Minimum Reaction Time Number Non Significance Peabody Developmental Motor Scale version 2 Standard Deviation Total Motor Quotient Visual Motor Integration
10 CONTENTS page Acknowledgement. Abstract List of Tables... i List of Figures... iii List of Abbreviations vi Chapter (I): INTRODUCTION Statement of the problem.. 5 Purpose of the study.. 5 Significance of the study... 5 Limitations. 6 Delimitations. 6 Null Hypothesis. 7 Basic Assumption.. 7 Chapter (II): LITERATURE REVIEW I. Down syndrome 8 Definitions. 8 Risk factors 9 Etiology 10 Genetics and Types of Down syndrome. 11 Diagnostic tests.. 13 Features of Down syndrome Signs and Symptoms. 15 II. Cognition 27 Definitions.. 27 Components of Cognition. 28 Cognitive development in Down syndrome 36 Cognitive Impairment in Down syndrome.. 37 Cognition in the Acquisition and Execution of Motor Skills 38 Cognition and Motor Function Relationship between Attention and Motor Function 39 Interaction of Cognition and Hand Function Skill Development.. 40 III. Hand skills 43 Components of hand skills. 43 Functional components of reaching Classification of grasp patterns.. 47 Sequential development of grasp pattern Factors affecting development of hand skills 50
11 Hand function in the Down syndrome population The Peabody Developmental Motor scale. 53 Chapter (III) 55 Subjects, Instrumentations and procedures Subjects. 55 Instrumentations 56 Procedures. 60 Chapter (IV) Results Chapter (V) Discussion Chapter (VI) Summary, Conclusion and Recommendation References Arabic Summary
12 Introduction Down syndrome (DS) trisomy 21, results from one of the most common chromosomal abnormalities in humans, the presence of extra chromosome (21), or extra part of a chromosome, in each cell of the body results in 47 instead of the usual 46 chromosomes. This anomaly causes the physical and developmental features of Down syndrome such as congenital heart disease, mental retardation, small stature, decreased mucsle tone (hypotonia), hyperflexibility of joints, speckling of iris (brushfield spots), upward slant of eyes, extra fold at inner corners of eyes (epicanthail fold), small oral cavity resulting in protruded tongue, short board hands with single palmar crease (simian crease), and wide gap between first and second toes (James, 2004). Hypotonia is the major problem of Down syndrome, it means decreased muscle tension. It is easily observed in children with Down syndrome when they were infants. Decreased muscle tone results in exaggerated joint range and decreased stability. The child seems "floppy" or some what like a rag doll (Pueschel, 2000). A change or interruption of any one of the anatomic components of the hand can affect functional use of that hand. Interruption of the transverse or longitudinal arch of the hand contributes to instability, deformity or functional loss. All motor skills and manipulative tasks require the greatest interaction between cognitive and motor abilities, and limitations in one of this area may influence the development of the other (Exner and Henderson, 2001). Cognitive function is defined as a higher order behavior involving primary cortical structure of the brain to program adaptive behavior, to solve problems, memories information and focus attention (Aldenkamp et. al., 2003). Cognition involves developing the ability to handle information in order to
13 solve problems. The information must be selected, represented, transformed, stored, and retrieved. Cognitive functions describe the different way the brain obtains information about environment, which includes physical objects and events, ourself and other people. Young children develop internal rules about how these different components are connected and related through categories, rules, skills, and procedures. Cognition includes the process of the brain that allows experience to the environment remember, think, act, and feel emotions. Cognitive process is complex, divers and highly inter-related. Cognition is necessary for learning and execution of all motor skills (Rutter et al., 1998). The brain receives and processes all the information that a child experiences in his environment. Early childhood is a critical time as the brain is rapidly developing and needs stimulation in order to develop its maximum potential. This early period is very important as the brain is growing and making connections in response to what it experiences. The brain is influenced by the social and psychological environment. This means that long term development can be influenced by lack of stimulation or damage due to neglect or injury. At the same time the potential for growth and development in the early years means that if injury does occur there is potential for recovery over time (phenomenon of brain plasticity) (Christie2006). Children with Down syndrome frequently present with cognitive and perceptual problems which limit functional improvement. Cognitive delay in addition to delayed postural and motor skills may further limit the child's ability to interact with the environment, explore the space and manipulate objects, these affect perceptual development such as understanding properties and uses of objects (Kaplan and Corrigan, 1994 and Alderman, 2001). Perceptual-motor function: general principle of motor control is that "the motor system is turned to perception". Perceptual-motor skill is the modeling of actions towards the physical characteristics of objects, places, and events such as the
14 shaping of the hand to fit the size and orientation of an object, reaching required distance and direction for grasp, or timing a reach to grasp a moving object (Rosenbaum, 1990). Mental retardation mild to moderate, with an intelligence quotient (IQ) of 50-70, is a constant feature in Down syndrome. This degree of mental retardation has a negative impact on psychomotor, cognitive and language development (Millar et al., 2002). The actual IQ range of Down syndrome children is quite variable but the majority of such children are in what is, sometimes, known as trainable range. This means that most people with Down syndrome can be trained to do regular self-care tasks, function in a socially appropriate manner in a normal home environment, and even get simple jobs (Leonard et al., 2004). Children with Down syndrome tend to have short and thick hands. The fifth finger in each hand may curve inward. A larger space than normal may be developed between the first and second toes. Palms of the hand usually displays a single side to side crease, which is different from the multiple and varied creases most that other people have (Marlene, 2007). Hand function has a great significance for occupational performance. The greater the difficulties in hand function, the greater the impairment in skills that allow for independence and participation in academic and social activities. Children with hand function difficulties are usually limited in their ability to effectively or efficiently complete daily life skills and develop skills that will support optimal occupational performance in the future (Henderson and Pehoski 2001). Reha com system is a computer based software that composed of several rehabilitation programs, designed to measure and rehabilitate different cognitive abilities such as; attention and concentration, figural memory, reaction behavior, and logical reasoning (Hasomed 2003).
15 Peabody developmental motor scales (PDMS-2) have many items for the assessment of hand functions, including grasp, hand use, eye-hand co-ordination and manual dexterity (Hendersone and Pehoski 2001). Statement of the problem What is the effect of cognitive rehabilitation on hand function in children with Down syndrome? Purpose of the study: The purpose of the study was to detect the effect of cognitive training via Reha-Com (attention and concentration) on hand function in children with Down syndrome. Significance of the study: Mental retardation is the major associated problem in Down syndrome children that affects hand function (Pueschel, 2000). Cognitive deficit is considered one of the major problems affecting hand functions and activities of daily living in children with Down syndrome. Children have difficulties with hand skills that affect their social participation because of limitations in ability to engage in activities with their peers or messiness in task completion (Henderson &Pehoski 2001). The decrease of motor skills seen in these children may affect their level of social interaction. Poor interaction with the environment may contribute to processing delays regarding the subject's relation to the world and to the others. In this study we examine the effect of cognitive rehabilitation (attention and concentration) on hand function in children with Down syndrome. This might improve the ability to engage playful interaction using objects and may influence the Down syndrome individual's social development.
16 Limitations: This study was limited to the following factors: 1- Infrequent attendance of some patients. 2-Factors related to the subjects (fatigue, fear, attention, motivation,or understanding), the tester (clarity of instruction), and the testing location (distractions). Delimitations: This study was delimitated to: A- Subjects: Twenty six children with Down syndrome from both sexes were be selected from El Tarbia El Fekria School for Children with Special Needs and Education, with chronological age ranges from 7 to10 years to be suitable for cognitive training. They had grade 3 according to modified functional reaching scale. They were able to sit independently. Their IQ levels were with average 60 according to (Stanford- Benet) test. B- Venue: This study was conducted at cognition laboratory for attention and concentration evaluation and training of the Faculty of Physical Therapy, Cairo University and El Tarbia El Fekria School for Children with Special Needs and Education. C- Equipments: Measuring equipments: Reha com system Peabody developmental motor scale (PDMS-2) Modified Functional Scale of reaching. Therapeutic equipments: Reha-Com system
17 Other tools: Puzzles, cubes, buttons, paper, pens, clay different colors, beans, bottles, jars, and blunt scissors. Null Hypothesis There was no significant effect of cognitive training on the hand function in children with Down syndrome. Basic Assumptions 1- It was assumed that during evaluation all children were relaxed. 2- It was assumed that caregiver were cooperative at session and at home. 3- Environmental factors such as cold and noise were controlled. 4- Results obtained from the study would be of Value for physical therapists.
18 Literature review I. Down syndrome Down syndrome is the most common genetic cause of the intellectual disability. It is characterized by delaying of motor function and mental retardation (Mark, 2003). Down syndrome is a chromosomal disorder characterized by the presence of an extra copy of genetic material on the chromosome 21, either in whole (trisomy 21) or part (such as due to translocation). The effects and extent of the extra copy vary greatly among people depending on genetic history (Hulten at al., 2008). This extra chromosome affects the development of the body and brain. In most cases, the diagnosis of Down syndrome is made according to results of karyotype or cytogenetic test administrated shortly after birth (Chen, 2004). Among all conceptions greater than 50% of 21- triosomy features are spontaneously aborted during early pregnancy (Paul, 2002). Down syndrome occurs in about one in every births. It affects both boys and girls equally. Less than 25% of Down syndrome cases occur due to an extra chromosome in the sperm cell. The majority of cases of Down syndrome occur due to an extra chromosome 21 within the ovum supplied by the mother (non disjunction) (Evans et al., 2004). The prognosis for children with Down syndrome has improved dramatically. Many survive beyond the ages of The most significant improvements in their physical and mental development have resulted from training in self-help and work skills. Children with Down syndrome tend to be hypotonic, that is, to have decreased muscle tone at birth. Making them floppy and poorly coordinated, this improves with age, however, overall growth is relatively slow, and final height is reached at around age 16. Girls may menstruate and be fertile, but males are usually infertile (James, 2004).
19 Risk factors: Researches have established that the likelihood that a fertilized ovum will contain an extra copy of chromosome 21 increases dramatically as a woman ages increases. Therefore, an older mother is more likely than a younger mother to have a baby with Down syndrome. Scientists warn that women aged between33-35 and older have a scientifically higher risk of having a child with that condition. At age 30, for example, as a woman has less than a 1 in 1,000 chance of conceiving a child with Down syndrome. Those odds increase to one in 400 by age 35. By age 42, it jumps to about 1 in 60 (Hobbs et al, 2000). Occasionally Down syndrome will be seen in children of younger mothers; the genetic basis for this event may be due to chromosomal translocation where a section of one chromosome is placed into another chromosome. Sometimes this translocation occurs spontaneously, and rarely the translocation will occur when the parents have a translocation in their own genetic makeup (Debra, 2002). More boys than girls are born with Down syndrome. Older fathers may also be at an increased risk of having a child with Down syndrome. It is will known that the extra chromosome in trisomy 21 could either originate in the mother or the father. Most often, however, the extra chromosome is originating from the mother (Chen, 2002). Advanced maternal age is a major risk factor for Down syndrome (trisomy group only) while there is no increased risk for either mosaicism or translocation groups related to increased maternal age. Genetic testing (by karyotyping for both parents) may help determination the origin of translocation (Egan et al., 2004). For mothers aged 20 years or younger, the occurrence is one per 2500 births but at younger ages, the risk is about one in 4,000, while the woman in age 35, the risk increases to one in 400 live births. By age 40 the risk increases to one in 110. As a woman's age (maternal age) increases, the risk of having a Down syndrome baby increases significantly. For mothers aged 45 years or older, the occurrence is 1
20 per 55 live births (Egan et al., 2004, Natalio and Zquierdo, 2005). Etiology: The various physical and mental abnormalities associated with Down syndrome are caused by a genetic imbalance; there is an extra chromosome in all or most cells of the child's body. Normally, every cell of the human body except for the gametes (sperm or ovum) contains 46 chromosomes, which are arranged in pairs. With Down syndrome there is one extra or 47chromosomes. There are three processes by which this anomaly can occur which are nondisjunction, translocation and mosaicism (Unruh, 1994, Nilhom, 1996). Genetics and types of Down syndrome Chromosomes are the carries of genetic information that exist within every cell of the body. Twenty-three distinctive pairs or 46 total chromosomes are located within the nucleus (central structure) of each cell. When a baby is conceived by the combining of one sperm or an ovum causes that cell to contain 24 chromosomes. Nondisjunction during meiotic cell division may occur and cell will have 47 chromosomes (Evans et al., 2004) Fig: ( 1) Fig: (1) Numbers of cell's chromosomes in Down syndrome (2010)(
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