Down Syndrome (DS) is a congenital autosomal anomaly characterized by retardation in growth and mental retardation, which negatively affects the lives of individuals. Rather than a disease, it is a genetic difference. The presence of 47 chromosomes instead of the 46 chromosomes that should normally be present in the human cell, accompanied by distinct physical characteristics, was first described by Langdon Down in 1866 and called Down syndrome. Although the findings in Down Syndrome vary according to each individual, individuals generally show retardation in the areas of physical development, motor development, sensory development, cognitive development, language development and social development.
The incidence of Down syndrome is not correlated with gender, race, country and socioeconomic levels. In general, it is seen innewborns at a rate of 1/700-1/1000. It is thought that the prevalence of DS in Turkey is approximately 1/700 and there are around 100,000 individuals with DS today. The prevalence of Down syndrome differs depending on the age of the mother. It is seen that the prevalence increases with increasing age, and it is 1/1500 in pregnancy between the ages of 15-29, 1/800 in pregnancy between the ages of 30-34, 1/270 in pregnancy between the ages of 35-39 and 1/100 in pregnancy between the ages of 40-49.
Genetic variations of down syndrome can be seen in 3 different types: DS cases, Trisomy 21, Mosaicism and Translocation.
Trisomy 21 (47 XX + 21): It is defined as the non-division of co-chromosomes during cell division.In this type of DS, the individual’s chromosome number is 47, and the chromosome map shows that the 21st chromosome has three. Trisomy 21 is seen in 95% of individuals with DS and more in older pregnancies.
Mosaic type (46 XX / 47 XX + 21): It occurs as a result of an incorrect division in one of the first cell divisions after fertilization. In such DS, some cells of the embryo have 46 chromosomes, while some have 47 chromosomes. 47 Although the proportion of cells with chromosomes varies from child to child, children with Mosaic DS have only some of the dysmorphic properties that occur in relation to DS. Mosaicism is seen in 1-2% of individuals with DS.
Translocation (45 XX, t(14; 21q), 45 XX, t(21q; 21q): 60% of DS due to translocation occursduring fertilization, 40% comes from family inheritance.
The 21st chromosome of this type is attached to the 14th chromosome in the cell. Although the number of chromosomes in DS due to translocation is 46, It carries a copy. The type of translocation is the only type of DS that can occur by hereditary means and is likely to recur in subsequent pregnancies. Translocation-related DS is seen in 1-2% of individuals with DS.
DIAGNOSIS OF DOWN SYNDROME BEFORE CHILDBIRTH
Down syndrome is a genetic difference that can be diagnosed during pregnancy. Prenatal diagnostic tests; double screening test, triple screening test, ultrasonography … From these tests, especially with a double screening test, it is possible to detect 93% of babies with Down syndrome. A definitive diagnosis is made by CVS (chorionic villi) or amniocentesis.
DYSMORPHIC FEATURES RELATED TO DOWN SYNDROME
Head and Neck
Ears that are small, short and located in the lower part
Overflowed out and slit tongue
The appearance of gnarled nape
Upward oblique palpebral fissures
The root of the flattened nose
Transverse palmar line
A wide decoupling between the big toe and the second toe
Hyperflexibility of joints
Short, scalloped hands
Hypoplasia of the middle phalanx of the fifth finger
Inwardly curved little finger
GROWTH DISORDERS RELATED TO DOWN SYNDROME
Disephaly children with DS differ in terms of birth weight, height and head development compared to their non-disabled peers.
Children with DS have a slower growth rate than their peers without disabilities, especially in infancy and adolescence. The main factor affecting the growth rate is the congenital heart diseases they have. The average height of adults with DS is 157 cm in males and 144 cm in females. The average body weight is 71 kg in males and 64 kg in females. Body weight values of individuals with DS are higher than height values compared to their peers. Therefore, they usually have an obese appearance.
40% of individuals withDS are born with congenital heart disease. Studies have shown that DS is associated with various congenital malformations and therefore regular monitoring of individuals with DS is important in terms of improving their quality of life.
Trisomy 21 is the species that constitutes the most risk group in terms of gastroenterological system. Since individuals with DS have a ring-like pancreas, atresia of the duodenum or duodenal narrowing disorders can be seen in these individuals. Hirschsprung disease, called large bowel enlargement, is more common in children with DS with Trisomy 21 type. Celiac disease, which occurs due to the abdominal cavity, is another gastroenterological disease observed in individuals with DS.
Eye diseases such as myopia, hyperopia, astigmatism and strabismus can often be seen in individuals withDS. Disease is observed in 5% of newborn babies with DS. Depending on the increase in age, the incidence of eye disorders also increases.
Problems are seen in 38-78% of individuals with HEARING DISEASESDS. Since individuals with DS have a high risk of developing hearing loss, close follow-up is recommended in terms of hearing.
HEMATOLOGICAL DISEASES are directed to hematological anomalies, especially red blood cells, white blood cells and platelets, seen in individuals withDS. The incidence of leukemia disease in individuals with DS is 1-1.5%. Polycythemia (increased red blood cells) is observed in approximately 65% of neonatal infants with trisomy 21 type DS. Macrocytosis (presence of large erythrocytes in the blood) is also frequently seen in children with DS. In individuals with DS, the number of white blood cells is 5% less than their peers without disabilities.
In individuals withDS, different types of immunological diseases that develop due to susceptibility to infection, autoimmune diseases and malignancy are observed. Studies have shown that individuals with DS often have immunodeficiency. In children with DS, it has been observed that expansion in T-Cell and B-Cells gradually decreases in the first years of life compared to children without disabilities. However, although T-Cells have reached a value close to normal level, it has been reported that the decrease in B-Cell is permanent.
ENDOCRINE SYSTEM DISEASES
Thyroid dysfunction is the most common endocrine anomaly in patients with DS.Advanced age and gender (more in female gender) increase this risk. Delayed maturation in the hypothalamohypophyseal thyroid axis causes a decrease in the response of the thyroid-stimulating hormone (TSH). Hypothyroidism is the cause of osteopenia and osteoporosis in patients with DS. Diabetes is another endocrine anomaly that occurs due to the endocrine system and is frequently encountered in individuals with DS. Type-I diabetes is more common in individuals with DS.
Atlantoaxial instability (AAI) is an excessive mobility of the atlas and axis joint. AAI can lead to subluxation (partial or semi-dislocation) of the neck spine. About 13% of individuals with DS have asymptomatic AAI. The probability of spinal cord compression caused by this disorder is about 2%. AAI is diagnosed by lateral neck radiography taken in the neutral position, flexion and extension. In patients with symptomatic spinal cord compression, curved neck, neck pain, gait abnormalities, loss of bladder and bowel control is common, although early stabilization of these anomalies requires. AAI 5 mm distance measurements in the literature, especially children with DS binary combat sports, gymnastics, trampoline exercises, butterfly swimming, high jump, and so some high-risk sporting activities it is suggested that you participate in.
Joint laxity, hypermobility, ligament laxity and november hypotonia are the main causes of orthopedic problems in people with Down Syndrome. Hip dislocation, genu recurvatum, ankle varus/valgus, pes planus, atlantoaxial instability and patellar instability are common orthopedic problems in individuals with Down Syndrome.
Down Syndrome is a condition in which the child has hypotonia, ligament laxity, november of muscle strength and joint hypermobility due to their insufficiency;
* resting their heads on their necks,
- kyphotic sitting position,
* do not sit with your legs in extreme abduction,
- performing knee extension by bringing their knees to the recurvatum to stand,
- their legs develop compensatory movement patterns such as walking with a wide support surface in abduction. In order for children with Down Syndrome not to experience pain and orthopedic problems in the future, the development of compensatory patterns should be prevented.
DEVELOPMENTAL CHARACTERISTICS OF CHILDREN WITH DOWN SYNDROME
Cognitive development covers the functional relationship between body and intelligence. Individuals with DS have different levels of intellectual disability, and therefore cognitive development processes also differ. 80% of individuals with DS have mild intellectual disability, and individuals with DS with moderate or severe intellectual disability can also be encountered. Depending on the close relationship between developmental areas, the cognitive development deficiency seen in individuals with DS can negatively affect other developmental areas.
THE emotional and social development ofchildren is examined under the title of “affective development”. Babies with DS respond by smiling or making a sound when spoken similarly to the behaviors of their peers without disabilities, show that they want to be held, enjoy fun games, and try to communicate with their environment by making loud noises to attract the attention of their environment. The fact that individuals with DS in infancy try to communicate similarly to their peers is important in terms of their cognitive and psychomotor development. In addition, DS children tend to be more positive than their peers with and without intellectual disabilities in terms of socialization, making friends and compassion.
Psychomotor development is the voluntary mobility of the organism in parallel with the physical growth and the development of the central nervous system. Psychomotor development problems such as learning are caused by the extra 21st It’s a chromosome. Volumetric brain imaging studies have shown smaller frontal, occipital and temporal lobes, smaller hippocampal volume, decreased corpus callosum and cerebellum size, decreased upper temporal gyrus and brain volume. Such abnormalities in the brain are one of the causes of psychomotor dysfunction in individuals with DS. For example, small frontal lobe volumes cause cognitive disorders and gait disorders, especially in adulthood. Cerebellum hypoplasia in children with DS is a symptom caused by overexpression of the start genes and is responsible for problems with muscle hypotonia, hypermobility, axial control, balance, coordination, and speech disorders. The size of the corpus callosum also decreases in children with DS and is associated with mental retardation, coordination problems, and atypical laterality.
Language development of individuals with Down syndrome is lagging behind their peers. Children with Down syndrome begin to use their first words between the ages of 1-6, short sentences at the age of about 5, and syntax rules are acquired after the age of 12. Although they are socially active individuals, they have difficulty in using language metaphorically and understanding irony. Another remarkable feature in terms of speech characteristics is pronunciation errors. This situation causes the clarity of speech to be low for individuals with Down syndrome. Differences in the anatomical structure of the mouth (small mouth, tongue forward position) in individuals with Down syndrome affect the quality of sounds and understandability of speech in the hypotonus of oral muscles.
Sensory integration is the processing of information received through the senses of sight, smell, taste, tactile and hearing as well as vestibular and proprioceptive senses in daily life. Sensory processing disorder, also known as sensory integration disorder, occurs when the brain inefficiently processes sensory messages from the environment. Tactile, vestibular and proprioceptive senses are very important for functions. These senses can affect academic skills, attention, balance and coordination, body awareness, fine and gross motor skills, hand preference, self-esteem, social skills, speech and tactile skills. Difficulties in this area can lead to behavioral problems. Such problems can also be common in children with DS.
Two important factors affecting motor development in children withDS are hypotonia and hypermobility. These two characteristics may vary in children with DS and cause insufficient co-contraction in the muscles around the joint. There is a difficulty in initiating and sustaining movements against gravity. They reach the developmental stages such as sitting, crawling and walking later than their peers. Mental disability also often leads to deviations in motor skill development, and thus inadequate motor skill performance. Problems such as decreased stability in the pelvis and pes planus, which may develop due to hypotonia, cause balance problems in activities such as standing on one foot, tandem walking and running. Muscle weakness, mental retardation, dysfunction in sensory integration processes, cartilage hypoplasia and insufficient bone density cause insufficient co-contractions, leading to additional problems in balance reactions. Reaction times are much slower in children with DS. Children with DS go through the stages of fine motor skill development later than their peers and their quality is not as good as their peers. These children need verbal and visual stimuli and motivation to acquire fine motor skills. In particular, they have difficulty in putting into action complex and difficult skills that require cognitive and perceptual reasoning. Late acquisition of sitting posture in children with DS has negative effects on fine motor skills. Some phenotypic characteristics of children with DS may also adversely affect performance. Small and thick hands, short fingers, arched small finger, ligament laxity and loose hand can cause difficulties in manipulative functions. Hypotonia is also one of the important reasons for the delay of fine motor skills. Hypotonia seen in the arm and hand muscles makes even simple actions, such as holding objects, pressing a large button, difficult. The Core Motor Skill test, developed specifically for DS patients, can be used to evaluate motor development in children aged 3-36 months.
The skills of individuals to use domestic and social resources that are necessary for them to live independently in society are called daily life skills. In addition to basic daily life activities, skills and social skills in auxiliary daily life activities such as shopping, clothing cleaning and care, cooking, home management, budgeting are necessary for the child to be functionally independent in adulthood. Children’s stepping into independence starts with gaining self-care skills. Delays in mental and motor development mostly affect the adaptive and functional skills of children with DS. Studies have found that severe functional limitations are rarely seen in school-age children with DS, but help and supervision are required for self-care, communication and social skills. Pediatric Functional Independence Scale (PFIS), Pediatric Disability Assessment Inventory (PAS), Vineland Adaptive Behavior Scale are frequently used in the evaluation of daily life activities and functional independence.
INTERVENTION PROGRAMS IN DOWN SYNDROME
Include treatment, drug therapy, physiotherapy and special training in Down syndrome.
DRUG THERAPY INDOWN SYNDROME
The use of antioxidants that catalyze methylation, especially folic acid, folinic acid, vitamin B12, vitamin C and E and multivitamin, is beneficial in Down syndrome due to the impairment in homocysteine and folate metabolism. In addition, they benefit from the use of essential amino acids (methionine,..), essential elements (Zinc,..) and Coenzyme Q10.
– Drug treatments tried in children with Down syndrome:
Since the brain acetylcholine level is low in children with DS, the use of drugs that increase the use of acetylcholine in the brain, such as Piracetam, is not recommended due to its aggressive, irritability and obesity-enhancing side effects despite its effect on cognitive functions such as attention, learning and memory.Donepezil: As an anticholinergic inhibitor, it has been suggested to have a positive effect on memory and speech, but it has not been found useful after treatment in controlled studies.
– Experimental treatments in children with DS: In recent years, studies have been published showing that the prenatal use of both Prozac (Fluoxetine), an antidepressant, and Apigenin, an intense antioxidant, corrected cognitive functions in mice with DS after birth. In an in vitro study, it was tried to inactivate the genes on the chromosome by placing the Xist gene, which is the X inactivation gene, in the DYRK1A gene in the extra 21st chromosome, and it was succeeded to transform the extra chromosome into a bar body, and it was suggested that this study would pave the way for chromosome treatment by silencing the chromosome.
SPECIAL EDUCATION INDOWN SYNDROME
For individuals with Down syndrome, the learning process should be in the form of small steps that require a lot of effort.Families should be directed to the early education program in the first days following the diagnosis. The special education program should be planned according to the needs of the baby and the family and should include physiotherapy, occupational therapy, fine and motor development, social ability and language-speech therapy.
PHYSIOTHERAPY IN DOWN SYNDROME
Children with DS should be taken to the physiotherapy program at the earliest period, from the first weeks, as pronounced hypotonia in the newborn adversely affects gross and fine motor development. Because the first 3 years of a baby’s life are very important for neurological development, and development and learning occur very quickly during this period.
Pediatric physiotherapy is performed in order to ensure that the child reaches the maximum possible functional capacity. Bobath/Neurodevelopmental treatment approach, one of the most modern treatment approaches today, targets not only motor development, but also sensory, emotional, social and cognitive development and is ideal for physiotherapy of infants with Down syndrome.
The main applications used in physiotherapy programs initiated from the early period in children with Down Syndromes are:
• Appropriate positioning, holding and carrying
• Correct holding techniques
• Object tracking
• Midline orientation
• Hand-eye coordination
• Postural control• Transition activities between positions
• Acquisition of rough motor development steps (rotation, sitting, crawling, standing, walking)
• Development of fine motor movements (effective use of hands, hand-eye coordination)
• Quality of movementsand walking
• Reduction of compensated movements
• Acquisition of balance, correction and protective reactions
• Development of relationships based on trust, socially
• Problem solving, imitation, comprehension, comprehension
• Sensory stimulation of the baby (vestibular, tactile, proprioceptive stimulations, etc.)
• Activation of oral and facial muscles required for suction, nutrition and speech
• Monitoring the musculoskeletal system, informing the family about possible deformities and referring them to the physician if necessary
• Foot health (appropriate footwear, insoles and orthosis applications)
• Family education is carried out within Physiotherapy game editing. The physiotherapy session is based on the evaluation, therapy and re-evaluation of the child in game fiction. The child, family and physiotherapist should work together in cooperation. In order for physiotherapy to be effective, the child’s life needs to be planned, the house where he/she lives needs to be arranged and the therapy needs to be applied at home. Normal function and quality of life can be achieved by all individuals in the family participating in the therapy process.
Although not every individual with DS needs physiotherapy, the physiotherapy program to be organized for individuals with DS depends on the needs of the individual. There is no standard treatment plan, but effective physiotherapy management of Down Syndrome includes a combination of applications such as neurodevelopmental treatment methods, sensory integration therapies, oral motor exercises, balance and coordination exercises, strengthening exercises, resistant exercises, video-based games, hippotherapy, aquotherapy, play therapies, BMS Method, perceptual motor therapy, and traditional power and conditioning programs.
Some examples of effective interventions for children with Down Syndrome are:
TUMMY TIME :
Tummy Time is a simple physiotherapeutic intervention used for babies with Down Syndrome. Parents are encouraged to position their children on the abdomen in various positions for a long time. It has been found that spending time in this position gives babies a chance to develop strength, balance and motor skills against gravity and is therefore extremely beneficial. When the Tummy Time technique is applied, babies usually achieve motor skills such as turning, sitting, and crawling, and achieve better balance early in their lives. When this intervention is started for a child with DS in the first ten weeks of his life, half of the children without DS experience similar levels of motor development.
NEURODEVELOPMENTAL THERAPY (NDT)
NDT is an approach that focuses more on the quality of november and coordination than individual muscle group function. As physiotherapists, we can use our hands both to prevent abnormal movement patterns and to facilitate movement patterns that are more natural. The NDT approach, an applied approach, is performed by the physiotherapist by intervening at several “key control points”, including the head, shoulders, trunk and/or pelvis, to direct and change the movement. NDT is suitable for individuals with DS, as individuals with DS november have limbs and muscles that are not well controlled.
SENSORY INTEGRATION THERAPY
Individuals with Down syndrome often have difficulty processing information from the environment. 8 problems may arise in the processing of information received by our senses (sight, taste, smell, hearing, tactile, vestibular, proprioceptive, interoceptive). Sensory integration problems can occur in different ways. A sensory modulation problem observed by responding to sensory stimuli that should be perceived as normal above or below normal, or by searching for sensory stimuli that should be perceived as normal; they can be observed as the problem of sensory discrimination, which is observed as a problem of distinguishing sensory stimuli, and as problems of physical-motor planning and coordination, which arise due to sensory problems. Sensory integration therapy provides neurophysiological adaptation of the sensory experiences experienced by individuals and reveals an adaptive response appropriate to the situation they are in. Sensory integration therapy includes a wide range of activities and equipment, such as weighted vests, brushes, puffs, swings, balls, obstacle courses, and game consoles such as Wii.
PERCEPTUAL MOTOR THERAPY (PERCEPTUAL MOTOR PROGRAM)
Perceptual Motor Therapy includes activities that help explore balance, coordination, and body awareness and are not skill-based. Instead of being taught a particular skill in therapy, individuals are provided with the appropriate environment to discover and determine what their bodies can do.
HIPPOTHERAPY (THERAPEUTIC HORSE RIDING) :Hippotherapyis a strategy in which the movement of the horse is used to promote the training of muscle and balance skills required for daily life activities.Experiencing and adapting to the rhythmic movements of the horse in different directions improves muscle contraction, postural control, weight transfer, and movement planning. When riding a horse, the child experiences body, pelvis, and hip movements similar to those occurring during the normal gait pattern. Improvements in balance, muscle strength and coordination, body control, postural stability, and weight transfer capabilities are among the general benefits of Hippotherapy. Learning new movement strategies through horseback riding can also be useful in developing skills such as walking, running and jumping.
SUGGESTIONS FOR CHILDREN WITH DOWN SYNDROME TO REACH MOTOR DEVELOPMENTAL STAGES EARLIER
According to the results obtained from thestudies, it is recommended that the following be taken into account when planning education to ensure that children with DS reach motor skill developmental stages earlier:
1.Giving enough time to learn a new movement skill
2.Carrying out supportive practice studies on skills that require balance and strength (such as sitting and walking) in newborns
3. Study of all variations of movement at different angles in practice studies
Using the method of modeling or visual movement in applied studies
4.Encouraging the child to participate in activities that enable him/her to be more active in daily life (gymnastics, playground, swimming, etc.)
5.Ensuring that the child starts the sport that is appropriate and interested in terms of his/her level of development as soon as possible
6.As a result of the acquisition of skills in the late period, the negative cognitive and social developmentis
Every year, March 21st is celebrated all over the world as Down Syndrome Awareness Day. It should be remembered that many individuals with Down Syndrome can have a more independent life by increasing their functional level with the right intervention methods, the support shown and, of course, a loving environment. Please, instead of blocking, instead of watching with different looks when we see a child with Down Syndrome in the park, instead of collecting signatures for our brother/child to go to school when a child with Down Syndrome arrives, instead of being principals who do not want to accept individuals with Down Syndrome to a sports facility; let’s be with them, support them, do not spare our love. Real friends don’t count chromosomes!