What disability does our child have lebenshilfe bundesvereinigung lebenshilfe e. V

What disability does our child have?You have been told that your child has a disability. But what does this mean for you and your child? And what is actually a handicap? We would like to enlighten and offer more detailed information on manifestations of mental retardation in children. Feel free to contact us if you have any questions.

What is a mental disability?

Parents often have a good sense of when something is wrong with their child. With it often go worries. Insecurities accompany. But what is a disability? Disability is often only understood as a medical diagnosis. In the case of mental retardation, for example, cognitive development is delayed and learning is difficult for the person. Often there are additional characteristics, for example, physical, speech or behavioral.

How does an intellectual disability develop??

Especially with rather rare genetic syndromes it often takes a long time until the diagnosis is clear. Mental disabilities can occur due to a variety of brain damage – during or after birth. Two groups are distinguished:

congenital (chromosonally caused) forms of disability as well as Acquired disabilities (due to poisoning during prenatal development or other damage).

The cause of an intellectual disability often lies in the genes. A genetic defect can occur spontaneously through a mutation. Causing an intellectual disability. It is comparatively rare for parents to pass on a disability to their children. But there are also many other reasons for the development of an intellectual disability. For example, the consumption of alcohol during pregnancy or complications at birth can also trigger a permanent impairment in a child.

However, it is often the case that although a disability is clearly present, this disability remains unclear as to its cause. Just as different as the causes are the manifestations of mental disability. The impact on the lives of the people affected.

Impairment without a clear diagnosis

Sometimes the doctor can neither determine a disease nor give the parents answers as to why their child is different. Nevertheless, the disability becomes visible in everyday life. Due to delayed speech development, for example, assistance is needed to help the child communicate with other people. This can be achieved, for example, through augmentative and alternative communication. Without these aids it can lead to impairments resp. disabilities in the activity-. participation possibilities come. Thus, the disability also arises when no assistance is provided to compensate for a limitation.

Social barriers

A disability therefore arises from the interaction of physical, personal and social factors. Social factors are for example participation opportunities and support services. People with disabilities can, for example, use buses and trains if there are no steps, stops are announced and the timetable is easy to understand. Only when these aids are missing, many people are excluded and thus disabled. Disability is essentially shaped by the opportunities that society offers or withholds from disabled people. We have gathered much more information on this topic in our detailed article on accessibility in Germany. Your child has a disability. They need help? Then contact a life support center in your area. On this map with our facilities you can find support directly on site.

Different manifestations of mental retardation

Aicardi-Goutieres syndrome

– Described in 1984 by Jean Francois Aicardi and Francoise Goutières – frequency is about 1:10.000 (very rare) – Abnormalities: Jumpiness, psychomotor slowing, epilepsy, skin lesions, fever episodes

Further information on intellectual disability: Aicardi-Goutieres syndrome

Jessika can't grasp, can't sit, can't hold her head, can't chew. She spends the day in the seat pan and in the hammock. Since last fall, she has been attending a special kindergarten part-time, which she visibly enjoys. Touching and sounds of the other children, the sound cradle – she likes all this very much. Jessika is four years old and has a very rare disability called Aicardi-Goutieres syndrome. 69 cases of this fatal handicap are known worldwide, six affected families with seven sick children in Germany.

The Aicardi-Goutieres syndrome is based on a relatively unexplored genetic defect. Affected individuals have severe psychomotor disorders, cerebral calcification, spasticity, impaired muscle and vascular tone, many children are blind. Jessika's parents live in a small village in the Westerwald and got in touch with the five other Aicardi-Goutieres families in Germany through the children's network, the university clinics in Essen and the Internet.

Together they have founded a self-help group to bring together those affected, to organize an international congress in one or two years and to raise funds for research. The group in Germany is also looking for a doctor who is interested in Aicardi-Goutieres syndrome and would be willing to advise those affected and to carry out joint research with doctors in other countries.

– Aicardi-Goutieres information page

Angelman syndrome

– Described in 1965 by Harry Angelman – Frequency is about 1:20.000 (very rare) – Abnormalities: Skull too small, eyes very deep, mouth relatively wide, malocclusions of teeth, hypopigmentation, seizures, ataxia, pointed chin, inappropriate laughter

Further information about mental retardation: Angelman-Snydrom

The British pediatric neurologist Harry Angelman first described the syndrome named after him in 1965. Angelman syndrome is the result of a rare change in chromosome 15, which usually occurs as a spontaneous mutation. It occurs in about one in 20000 newborns. After birth, there are initially no abnormalities; only in infancy is delayed development noticeable. Boys and girls can be equally affected by this disability.

People with Angelman syndrome are usually severely mentally retarded and also physically impaired. External characteristics: They often have fair skin and hair, a prominent chin and high cheekbones. Epileptic seizures already occur in infancy, often the tendency to seizures gradually decreases in the course of development. Although people with Angelman syndrome usually speak only a few words, it is still possible for them to communicate with support and assistance, for example, through visual material. Walking is possible at the age of two to three, often later, the movements remain stiff and clumsy.

It is noticeable that people with Angelman syndrome often laugh. Where do these "laughing fits" come from? is not exactly clear. However, these are not epileptic phenomena. A prognosis about the development possibilities of people with Angelman syndrome, who have a normal life expectancy, can hardly be made due to the complexity of the syndrome.

– The "Angelman" Association The association is a self-help initiative of parents.

Apert syndrome

– Described in 1906 by Eugene Apert – frequency is about 1-9:100.000 (very rare) – abnormalities: fused skull bones, malformation of the upper jaw, epilepsy, malformations of the extremities, scoliosis, emotional developmental disturbances

More information about mental retardation: Apert syndrome

Craniofacial malformations are genetic disorders that are present before birth. These include primarily the following five syndromes: Apert-, Pfeiffer-, Crouzon-, Carpenter- and Saethre-Chotzen-Syndrome. The Malformations occur on the head or. in the face and the musculoskeletal system on. In Apert's syndrome, some of the Fingers and toes fused together in bones. Mental development is also affected.

– Parents' Initiative Apert Syndrome e.V. Information exchange and sharing by parents and affected families

Autism spectrum disorder

– Profound developmental disorder with different subtypes – conspicuousness: Impairments in social interaction, reduced nonverbal behavior, little to no interest in reciprocal relationships with peers, lack of understanding of social rules, obsessive-compulsive disorder, and ritualized actions

Mental disabilities from the field: autism spectrum disorder

Asperger's Syndrome

– Described in 1941 by Hans Asperger – Frequency: 1-3:1.000 (relatively frequent) – Other peculiarities: in addition to impairments, special abilities also occur, such as z. B. Increased memory or hyperlexia

Early childhood autism

– Described in 1943 by Leo Kanner – frequency: 1:1000 (relatively frequent) – further peculiarities: little eye contact, isolation is sought, more fun with objects than with fellow human beings, sometimes strongly reduced ability to speak

– Federal Association Autism Germany e.V. Federal Association for the Promotion of People with Autism – REHADAT Knowledge Series: Autism

Cri-du-Chat Syndrome

– Described in 1963 by Jerôme Lejeune – frequency is about 1:20.000 – 50.000 (very rare) – Abnormalities: Skull too small, small chin, low-set ears, delayed development of motor skills, shrill crying during infancy reminiscent of cats, aggression

Further information about the mental handicap: Cri-du-Chat-Syndrome

It began with the birth of Kim, 1988 in Bremen. The newborn seemed "conspicuous" to the doctors, the immediately initiated chromosomal analysis showed as a result a 5p-Syndrome, also "Cri-du-Chat" or "cat cry syndrome called. The diagnosis was clear, but what did it mean??

Doctors did not know much about it. Kim's mother, Ute Meierdierks, was everywhere – no matter where she presented her child, to doctors, therapists, in early intervention – the "first". The only thing that existed were a few meager, mostly negative explanations in individual textbooks, mostly English, not always known to the experts by any means.

In contrast to many parents who are resigned to this, Ute Meierdierks was of the opinion: "That can't be it!!" She began, supported by the now deceased Dr. Regina Albrecht from the Center for Human Genetic Counseling at the University of Bremen, to seek out other affected people. Not an easy task, because internet and other contact points did not exist at that time.

First contacts were made through the contact column of the magazine "Eltern" afterwards mentioned in an article in the Lebenshilfe newspaper. The first meeting of affected families took place in a living room. But then it went on like a snowball: Many of the families knew affected families again and so on. And every meeting showed how urgent the need for further exchange of experiences was.

In 1993, the address file had grown to more than 40 families. It became difficult to organize and, above all, to finance the meetings of such a large group. In 1994, the Bremen Senator for Youth and Social Affairs found himself willing to provide start-up funding for the developing self-help group. First brochures could be printed and sent out.

In 1996 our support association for children with Cri-du-Chat syndrome was founded, with Ute Meier-dierks as the first chairman. 35 families signed the foundation of the association at that time – almost all of them are still involved ten years later.

At the beginning of our association life was a member survey. We wanted to get to know our children's abilities better and to find out which methods and therapies could help them and us. Thus, we became involved in a first, rudimentary worldwide investigation of Cri-du-Chat syndrome, initiated among others by Dr. Mary Esther Carlin from Houston, Texas. A visit from her was one of the highlights of one of our annual meetings. It still took time for us to find German medical assistance. Today we are grateful for the support of Prof. Dr. Ingo Kennerknecht and Dr. Thomas Neumann from the University of Munster. We can refer families to them with a clear conscience who contact us for addresses for genetic counseling. The specialists in Munster now know more than 100 people with Cri-du-Chat syndrome – from baby age to more than 40 years of age. This is now the age range of our children.

Since 2002 we are represented on the Internet and have contributed everything we know about the syndrome and what seems important to us for the development of our children.

After the stormy build-up, our association is now running in a more orderly fashion. Most of the affected families find us via the internet. We then contact the families, by phone, e-mail or letter, as desired. It is not always easy for us to absorb the worry and despair after the diagnosis is known. We are not trained psychologists. But we can sympathize with the parents from the bottom of our hearts.

We keep an address list of parents who are willing to become "new" parents Contacting parents. Our goal is to give as many affected people as possible an opportunity to attend and thus to directly exchange experiences. We are happy that in the meantime real friendships have developed among the families. Our annual meeting has almost become a kind of large, colorful, open family reunion. And this year, of course, we will also vigorously celebrate our tenth anniversary.

We have also learned that the expectations of our support group cannot always be met: There is no therapy that will cure cri-du-chat syndrome. We can't say: "Your child will develop one way or the other." There is no basis for this. The genetic diversity of each individual is – thank God – not calculable and predictable. The message of our member families to all others is: Our daughters and sons are developing positively, each in his or her own way. They grow up to be lovable people. Life with them is enriching and full of joy. And if it is like this in our case, it can be like this in your case as well.

– 5p-minus syndrome e.V.

Down syndrome

– Described in 1866 by John Langdon Down – frequency is about 1:850 – 1.000 (relatively common) – abnormalities: Epicanthus, small mouth, short stature, muscular hypotonia, sandal gap, linguistic abnormalities

More information about mental retardation: Down syndrome resp. Trisomy 21

In the case of people with Down syndrome, this is 21. Chromosome triple present. That is why it is often referred to as trisomy 21.

The mental and physical development of children with Down syndrome is generally slower than that of non-disabled children. This is explained by the division error of the germ cells before conception. The defective development is therefore already determined at the time of fertilization. Is no longer influenced by the course of the pregnancy. The physical and mental impairment caused by the trisomy cannot be reversed, but can be positively influenced by good (early) support and other assistance into adulthood.

The individual differences between people with Down syndrome in the different areas of development (z.B. walking, talking) can be very large, even larger than in non-disabled people. Children with Down syndrome will therefore develop in very different ways. Recent research refutes the previous amption that the development of children with Down syndrome proceeds with intermittent stagnations. It is clearly slowed down, but steady, and also does not stop at a certain age, as previously amed.

The infant is already smaller than other children of the same age; the later pubertal growth spurt is smaller; accordingly, the average height of adults with Down syndrome is about. 15 to 20 cm smaller than others. The Berlin scientist Hellgard Rauh and her colleagues investigated similarities and differences in developmental characteristics and behavior of toddlers with Down syndrome and non-disabled children. Among the important findings of their study are u.a. following findings:

1. In the first five years of life, the development of children with Down syndrome is similar to that of non-disabled children, but at about half the pace. 2. The mental development (z.B. wakefulness) progresses faster in most children with Down syndrome during the first three years of life than their motor (z.B. Running). After this time, they catch up in the motor area. Here, too, it is important to emphasize that the differences between the developmental trajectories of individual children are very great. 3. Children with Down syndrome react slower to stimuli offered to them. It is suspected that adults often give up their expectations of a child's response too soon. This can lead to a loss of learning and practice situations and positive experiences, but also to a comfortable and rather resigned attitude of the child. 4. Children with Down syndrome are very sensitive to mild overchallenge. Infants have a low attention span, while older affected individuals often exhibit evasive behavior.

It therefore requires a great deal of empathy on the part of adults to meet children with Down syndrome: Sufficient time, a lot of patience and attention to offer the child stimuli according to his abilities – these are important prerequisites to enable a satisfying coexistence for both sides.

– People with Down syndrome A comprehensive guide for parents and professionals by Etta Wilken – 12:21 Down is in – not out! Our campaign on prenatal blood testing for Down syndrome

Fetal Alcohol Syndrome

– Described in 1968 by Paul Lemoine – incidence is about 1:300 – 1.000 (common) – Abnormalities: Skull too small, short nose, thin lips, malformations, reduced birth weight, delayed development, attention deficit disorder

Further information on Alcohol embryopathy

Fetal alcohol syndrome is not inherited, so it is not due to a chromosonal cause, but results from prenatal damage to the child from the mother's abusive alcohol use. The only way to exclude this form of mental impairment in children is to completely abstain from alcohol during the entire pregnancy. Unfortunately, the frequency with which Fetal Alcohol Syndrome or.

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