IMPORTANT POINTS
Generalized anxiety disorder, obsessive-compulsive disorder, attention deficit hyperactivity disorder, depression, autism spectrum disorders, sleep problems, neuropsychiatric problems with progressive loss of cognitive skills are the most common mental problems in children with Down syndrome.
If the mental problems in children with Down syndrome are not treated, they impair the child’s daily life, education and social relations. It negatively affects her developmental level to a better level. It negatively affects compliance with treatment related to his medical condition.
Mental and physical health are a whole, and both the medical condition and the mental condition must be treated simultaneously.
Down syndrome
While there are articles about developmental retardation and mental problems seen in many disorders associated with developmental retardation, there are very few studies and articles about the mental states and effects of children with Down syndrome. Therefore, we have little information on this subject. Considering the relatively large number of publications on autism spectrum disorder, we can say that the issue of mental health of children with Down syndrome is neglected. Again, according to my clinical experience, while at least half of the children with Down syndrome have mental problems in the literature, it is very rare for them to apply to mental health outpatient clinics and receive the psychological support they need.
Down syndrome is the most common chronosomal disease. People born with Down syndrome have multiple congenital malformations and medical complications. It can be seen in all ethnic groups and socioeconomic levels. Its frequency is 1 in 700 live births. Since more than half of chromosomal anomalies resulting in trisomy 21 end in miscarriage in the first trimester of pregnancy, the frequency of trisxomy in all pregnancies is estimated to be approximately 1/200-250.
Table1: Maternal age – risk frequency for trisomy 21 in live birth*
|
Maternal age – incidence of Down syndrome |
|
25 years 1/1350 |
|
30 years 1/890 |
|
35 years 1/355 |
|
40 years 1/97 |
|
45 years 1/23 |
*Mr. CA and Steele MW Atlas of pediatric physical diagnosis. Extracted from Genetic Disorder and Dysmorphic Conditions p 11
The role of maternal age in the development of Down syndrome has not yet been fully explained. Having a baby over the age of 35 is still defined as the most important risk factor. On the other hand, 85% of all babies with Down syndrome are mothers whose maternal age is less than 35 years. The reason for this is the high number of children in the young age group. In other words, while advanced age continues to be a risk factor, it is suggested that having many children at an early age and therefore a high rate of Down syndrome is also seen in premature births.
Clinical findings
In Down syndrome, the diagnosis can be made easily with the clinical evaluation performed after birth. Hypotonia, weak Moro reflex, excessive skin fold on the neck, flattened face, upward sloping palpebral spaces, abnormal auricle, fifth finger clinidactyly, single palmar line on the palm are quite common findings in this period.
Apart from the facial anomalies seen in Down syndrome, problems with mental and physical development also occur. Affected individuals are often accompanied by mild or moderate mental retardation.
The most important health problems of children with Down syndrome are congenital heart diseases, gastroesophageal reflux, frequent ear infections, hearing loss, obstructive sleep apnea, and thyroid disorders. Dementia is seen in all patients with Down syndrome in their 30s. The risk of leukemia is also higher than that seen in the general population.
At the other end of the developmental spectrum, young children with Down syndrome appear to have lower overall rates of disruptive behavior as well as distinctive social, motivational and attentional profiles.
Doctors who follow patients with Down syndrome try to deal with two problems. The first is to improve patients’ cognitive performance through the use of appropriate supportive measures and special education. The second challenge is to treat complications that can worsen disability and can occur at any age (mental problems, sleep apnea, epilepsy). It is important to be careful and to make the necessary interventions, especially in terms of additional mental illnesses and regression.
Misconceptions and facts about Down syndrome
|
Misconceptions |
Truths |
|
It is a genetic disease |
It is a chromosomal difference. 21 as a result of incorrect division during cell division. It occurs when an extra chromosome is included in the chromosome pair. |
|
It is a rare disorder |
Down syndrome is not uncommon Occurs in 1 in 700 babies born The frequency of trisomy in all pregnancies is approximately 1/200-250 Maternal age over 35 is a risk factor. |
|
Down syndrome children and their parents are lonely |
Parents with a child with Down syndrome can get counseling and help about the difficulties the child will experience, health, social and legal rights, and family support at the relevant associations. The addresses of the associations reached by the volunteer working on this subject are given below. Turkish Down Syndrome Association; http://www.downturkiye.com/, National Down Syndrome association, http://nationaldown.com/ Association of Angels with Down Syndrome http://downdostu.com/ |
|
All children with Down syndrome experience severe intellectual disability |
Most individuals with Down syndrome experience mild or moderate intellectual disability. With the special education support provided from an early age, serious progress is made in developmental, language, learning, self-care and social relations in these children. Considering the child’s development and other skills and abilities, the problems experienced by children with Down syndrome related to intellectual disability cannot be considered as a multifaceted weakness. It is important to know that children with Down syndrome need enough time to solve events and respond, and to give them the time they need. |
|
Are children with Down syndrome always sick? |
Although children with Down syndrome are at risk for real medical problems in terms of congenital heart diseases, respiratory and hearing problems, and thyroid disorders, they often lead a healthy life with advances in health and treatment of these problems. |
|
Separate special education programs for students with Down syndrome are the only option in education. |
Students with Down syndrome attend regular schools. Their education is planned so that they participate fully in social and educational environments. Students with Down syndrome should be included in additional special education programs because of their mental-developmental problems. Individuals with Down syndrome graduate from high school, receive their diplomas, and some may go to university. |
|
People with Down syndrome cannot be active members of society |
Especially when the activities of down syndrome associations are followed, it is seen that children with down syndrome do individual and group work in the fields of folk dances, exercises, art and education very successfully.* *http://nationaldown.com/wp-content/uploads/2013/02/DS_iC.pdf People with Down syndrome are valued members of their families and communities and make meaningful contributions to society. |
|
People with Down syndrome are always happy. |
People with Down syndrome feel what everyone else feels. They experience all kinds of emotions. They value friendliness and are hurt—sad and hurt—by thoughtless behavior. |
|
Adults with Down syndrome are unemployed. |
Businesses employ adults with Down syndrome in a variety of locations, including banks, companies, hotels, hospitals, nursing homes, offices and restaurants. They also work in the music and entertainment industry, childcare, sports, and the computer industry. People with Down syndrome value their work like everyone else and want to work. |
Developmental characteristics of children with Down syndrome
Children with Down syndrome follow their peers behind in terms of motor skills, language and social interaction. In other words, they have problems in mental and motor development. The areas where they have problems are reasoning, problem solving, designing, abstract thinking, judgment, learning at school, learning from experience. For this reason, they have problems in self-care, social relations and academic skills, varying in severity according to each child. It is important for the family to support the child in terms of these developmental characteristics and to be in active interaction in order to gain new skills in children who have the above problems from an early period. For this reason, families should spend enough time with their children, be in active one-to-one social interaction, bring the child together with their peers, and create environments that enable them to play and engage in other activities. Children who are brought together in social environments with their peers receive support that can be considered important for learning rules, language development and social development. Again, starting from the early period, individual special education support and physiotherapy support for the development of motor skills should be taken. Since mental problems added to developmental problems will negatively affect the support that the child will receive from special education, a child psychiatrist should be consulted from an early period to determine whether there are additional problems.
Mental health of children with Down syndrome
At least half of all children and adults with Down syndrome face a major mental health problem in their lifetime. Children and adults with multiple medical problems experience higher mental health problems.
Mental symptoms in school-age and youth with limited language and communication skills
Disruptive, impulsive, inattentive, hyperactive and oppositional behaviors (ADHD, conduct disorder and oppositional defiant disorder comorbidities are more likely to be seen)
Anxious, attached, obsessive, inflexible behaviors (common anxiety and obsessive-compulsive disorder comorbidities are more likely)
Inadequacy in social relations, introversion/indifference to the outside world, repetitive stereotyped behaviors (autism spectrum disorders are more likely to be co-diagnosed)
Chronic sleep difficulties, daytime sleepiness, fatigue and mental problems (sleep disorders, sleep apnea and depression comorbidity are more likely)
During the school period, youth period and young adulthood, the following mental problems can be seen, together with better communication and cognitive skills.
Depression, social withdrawal, decreased interests and coping skills
generalized anxiety disorder
obsession-compulsive disorder
Regression resulting in loss of cognitive and social skills
Chronic sleep problems, increased sleepiness, loss of appetite, mood-related problems (mood disorders, sleep disorders, sleep apnea are more likely to be seen as additional diagnoses).
The following mental problems may occur in older adults:
generalized anxiety disorder
Depression, social withdrawal, decreased interests and coping skills
Regression resulting in loss of cognitive and social skills
dementia
If the child has a “new” “emotional/behavioral problems (mental problems)”, the medical reasons that should be investigated first are:
When a behavioral problem that didn’t exist before occurs, there are some tests that need to be done to determine if it’s due to a medical condition.
Thyroid function tests
Tests to be done in sleep problems, sleep laboratories
It is important to take the nutritional history and eliminate the problem areas in constipation or intestinal difficulties. When necessary, it can be referred to a specialist for diet.
It is important to make sure that you are evaluated for hearing (audiology), vision (ophthalmology), anemia (hematology), and the gastrointestinal tract.
The path to follow when emotional/behavioral problems and medical problems go together:
Emotional/behavioral problems are common in children and adults with Down syndrome and are not always caused by an underlying medical condition. However, these medical conditions in children and adults with Down syndrome should be evaluated comprehensively.
Medical conditions can cause and exacerbate emotional/behavioral problems. It may cause a situation that makes it difficult to treat the child’s underlying emotional/behavioral problems by causing adjustment problems in their treatment.
Improvement of a medical condition does not eliminate the underlying emotional/behavioral problems. For example, if a child with hypothyroidism also has depression, his depression will not improve with hypothyroidism treatment. Again, in a child with depression, unless Hpothyroidism is treated, even if the depression is treated, it will not completely improve. Emotional/behavioral and physical health are integral and interconnected, and both medical and mental conditions need to be treated simultaneously.
Common mental disorders in children with Down syndrome:
Generalized Anxiety Disorder
In this disorder, there is a state of extreme anxiety and worry about a number of events in daily life that persists most of the day in children. Children have difficulty controlling these anxieties. Along with this anxiety, complaints such as restlessness, excessive excitement, worry, getting tired easily, difficulty in concentrating or the mind seems to have stopped, irritability, tension in the muscles, and sleep disturbance can also be added to the table. This picture emerges after events in which anxiety and daily life-related stressors increase in children with Down syndrome. Anxiety often arises in uncertain, new and unusual situations, as well as during transitions such as the transition from home to school, meal or bedtimes, and anticipating new situations.
Obsessive compulsive disorder- obsessive-compulsive disorder
Obsessive-compulsive disorder (OCD) is characterized by obsessions defined as repetitive thoughts, impulses, or fantasies that often come unintentionally, cause significant anxiety and distress, and repetitive behaviors or mental disorders that the person cannot hold back in response to the obsession or according to rules that must be strictly enforced. It is a psychiatric disorder that is characterized by compulsions defined as actions and can start in childhood.
An increased level of restlessness and anxiety may lead him to follow familiar routines. This situation causes the child to remain inflexible and strictly adhere to some routines in his daily life. Parents often describe their child’s situation as being “stuck” in a certain behavior pattern. OCD will also negatively affect the child’s anxiety, attention and daily functions.
Common obsessions and compulsions; cleaning and washing behaviors against contamination, supervision against the thought of being harmed, seeking security against sexual obsessions, other thoughts and behaviors against religious thoughts, control and regulation behaviors against the thought of doing things right. In children with Down syndrome, obsessions such as not being able to change daily routines, eating the same food, wearing the same clothes, and obsessions are common. The clinic differs in children and teenagers. Again, it may take a long time to make a diagnosis when children do not distinguish between obsessive and compulsive behaviors as foreign to them, and parents see them as part of life and do not realize that they are psychological complaints.
The diagnosis is made clinically by taking a detailed history of the symptoms. By answering the questions below, parents can have an idea about whether their child has obsessive-compulsive symptoms. In the presence of symptoms, they can receive counseling and treatment support from child psychiatry specialists.
Short screening questions for detecting the presence of obsessive compulsive disorder:
Does your child wash and clean too often?
Does your child check certain things too often?
Are there any thoughts that are bothering your child or that he wants to get rid of?
Does your child’s daily activities take a long time to finish? (e.g. getting ready for school, eating, dressing, bathing)
Does your child have anxiety about getting things in order?
Do these problems affect and disturb your child’s daily life, social life, school skills?
depressive disorder
Compared to a similarly ordinary typical person, mundane events seem to have a disproportionate, extraordinary psychological impact for children and adults with Down syndrome. Children and adults with Down syndrome are more sensitive to changes in their environment, which they often perceive as negative. Both chronic diseases in their medical conditions, and worsening of symptoms and conditions that cause limitation in children’s daily and physical activities pose a risk for depressive disorder. At the same time, the stresses they encounter in daily life, life-related changes, for example, the marriage of a brother or sister, the loss of a family member as a result of sudden or chronic illness, the death of a pet living at home for a long time, leaving the teacher (leave, illness), being unable to go to school, school change. It can be a serious stressor for children with Down syndrome and can initiate depressive complaints.
Adolescence is the most risky period for depression. Young people who are trying to cope with school problems due to developmental problems and learning difficulties, on the other hand, will realize their own differences more and experience confusion during the formation of their identity and will try to question-understand the difference. Since friendships are important in this period, they may have difficulties in being different from their peers. Therefore, in the presence of stress factors, it is necessary to be alert in terms of depressive symptoms in all children and especially adolescents with Down syndrome. Mothers and fathers should realize whether the problems are due to the child’s depression. Nervousness, unhappiness, not enjoying what one used to do, behavior problems, school problems, attention problems, sleep problems, appetite problems, weakness, fatigue, introversion, aggression, restlessness, little talking, self-blame, feeling worthless, being pessimistic, In the presence of complaints in the form of negative talk about life, parents should consider that their children may have depression and should seek help from a child and adolescent psychiatrist.
What are the Symptoms of Attention Deficit Hyperactivity Disorder in People with Down Syndrome? How is the diagnosis made? Why is it Important?
Problems with attention difficulties, impulsivity and hyperactivity are common, especially in younger age groups, children with Down syndrome who have more cognitive and receptive expressive language problems. However, the frequency of ADHD seen in children with Down syndrome was found to be 31%-34%. This ADHD is considerably higher than the prevalence seen in the community.
ADHD is a neurodevelopmental disorder that is defined as being distracted, difficulty in maintaining attention, being hyperactive, fidgety, talking a lot, being impatient, and having problems in school, family, and friend relationships due to these symptoms. Psychiatric evaluation is made with the child and family to determine whether this disorder is present in a child. If necessary, information is obtained about the presence of symptoms in the school environment or whether they cause a problem. While obtaining this information, scales that question some ADHD symptoms are used. The diagnosis of ADHD is made by this clinical evaluation.
It is of particular importance that the diagnosis of ADHD should not be missed in children with developmental problems and Down syndrome. Because these children will have difficulty in doing the activities they need to do such as daily play, social relations, school skills due to their existing mobility, impulsivity and distraction. It will be difficult for them to benefit from the special education they need to receive. This will reflect more negatively on their understanding and learning skills, where they are more disadvantaged.
Sleep problems in children with Down syndrome
Sleep disturbance is more common in children with developmental disorders such as Down syndrome. Although there are only three main sleep problems (insomnia, excessive daytime sleepiness, and parasomnias), there are many causes of sleep disturbance in children with Down syndrome by nature. In children with Down syndrome, in addition to the causes of sleep problems seen in other children, coexisting organic and mental problems may cause sleep problems. ADHD, generalized anxiety disorder, depression, bipolar disorder are mental disorders that cause sleep problems in children with Down syndrome.
There is a high risk of developing obstructive sleep apnea, with mild to moderate cessation of breathing during sleep, which causes a decrease in oxygen saturation in the blood. Screening for sleep disorders in children with Down syndrome should be part of the routine. It should be taken into account that there are many possible causes of sleep disorders in Down syndrome. Not ignoring the diagnosis of sleep problems and making appropriate treatment will significantly alleviate the difficulties of both the child and the family.
Bipolar disorder in children with Down syndrome.
Bipolar disorder is a chronic disease that progresses with exacerbations and remissions. It progresses with depressive episodes and manic-hypomanic episodes. Depressive symptoms have been described above. Manic symptoms include the child being more cheerful or nervous than usual, being active, talking a lot, jumping from topic to topic, flying thoughts, being distracted, increased desires, desire to travel, shopping, sexually explicit talk and touches, insomnia, self-talk. siege is in the form of engaging in aggressive behavior. These symptoms greatly disrupt the child’s daily life. It may also worsen the developmental symptoms of existing Down syndrome.
After a certain period of time, it should be evaluated whether there is a possible bipolar disorder in children and adolescents with Down syndrome who are more irritable, active, talk more, have increased self-confidence and desires, and have insomnia after a certain period of time.
autism spectrum disorders
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that starts in early childhood and progresses with inadequacy in social-communicative development, repetitive behaviors and interests. In various studies conducted in recent years, the prevalence of ASD has been found to be over 1%. In terms of gender, ASD is seen 3-4 times more in boys than in girls.
Autistic individuals, the symptoms that occur, and the severity of these symptoms vary widely. In cases with autism, symptoms usually appear in the first or second year of life. Initial symptoms are typical, including delayed language development, social apathy, or unusual hypersensitivity to the environment. Babies diagnosed with ASD look for other individuals less and look after them less in the first six months of life. Features that distinguish ASD children from other children; eye contact, inadequacy in social interest and smiling, limitation in the use of gestures and signs, not looking when their name is called, inability to imitate, and delay in receptive and expressive language. In the 2-3 age period, the most common symptoms in the social field are; Inadequate eye contact, decreased interest in social games and mutual social interaction, less reference to parents to regulate mood, and a tendency to be alone were reported. In the 4-5 age group, differences from peers, limited gestures, reluctance to interact with others, not seeking peers, and inability to maintain relationships with peers become more evident. Language development and communication problems constitute an important part of the problems of individuals with ASD. Repetitive behaviors and repetitive language use, repetition of the other person’s speech, mixing personal pronouns, differentiation of normal voice volume, language use in a way that includes problems in the use of language for social interaction are different from normal. Also in this period, motor stereotypes such as swaying, turning on its own axis, walking on tiptoe, strange hand movements, flapping wings are common; There are also ritualistic behaviors such as arranging toys, playing with certain parts of toys.
The prevalence of autism spectrum disorder in children with Down syndrome was found to be quite high as 42%. This frequency increases especially in children with developmental delay and more severe medical problems. It is recommended that children with Down syndrome between the ages of 3-5 should be evaluated for autism spectrum disorders.
Sudden disability (regression) in children with Down syndrome
“Regression” in teenagers and young adults with Down syndrome is a picture characterized by loss of autonomy, loss of daily skills, decreased speech, loss of language skills, loss of academic skills, and psychomotor activity. The clinical onset may be sudden or progressive and the course is highly variable. The cause is unknown. Psychiatric symptoms in this picture are catatonia, depression, psychotic symptoms, and repetitive behavior.
It is suggested that there is a severe stress factor that triggers the condition in all patients. Partial or complete recovery has been reported as 50% in patients with regression. It has been determined that girls are more affected.
