I wasn't familiar with some of those diseases. It must be scary to be doing the best you can for your child and have something like this come up. Bold face is mine.
Childhood disintegrative disorder
Childhood Disintegrative Disorder 986 Photo by: Junial Enterprises Definition Childhood disintegrative disorder (CDD) is a developmental disorder that resembles autism . It is characterized by at least two years of normal development, followed by loss of language, social skills, and motor skills before age ten. Other names for childhood disintegrative disorder are Heller's syndrome, dementia infantilis, and disintegrative psychosis.
Description Thomas Heller, an Austrian educator, first described childhood disintegrative disorder in 1908. It is a complex disorder that affects many different areas of the child's development. It is grouped with the pervasive developmental disorders (PDDs) and is related to the better known and more common disorder of autism.
Initially CDD was considered strictly a medical disorder and was believed to have identifiable medical causes. After researchers reviewed the reported cases of CDD, however, no specific medical or neurological cause was found to account for all occurrences of the disorder. For that reason, CDD was included in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders , or DSM-IV , in 1994. The Diagnostic and Statistical Manual is the standard reference work consulted by mental health professionals in the United States and Canada.
Causes and symptoms Causes The cause of childhood disintegrative disorder is unknown. Research findings suggest, however, that it may arise in the neurobiology of the brain . About half the children diagnosed with CDD have an abnormal electroencephalogram (EEG). EEGs measure the electrical activity in the brain generated by nerve transmission (brain waves). CDD is also sometimes associated with seizures , another indication that the neurobiology of the brain may be involved. CDD is occasionally associated with such diagnosed medical disorders of the brain as leukodystrophy and Schilder's disease; but no one disease, brain defect, disorder, or condition can account for all symptoms and all cases. Research is hampered by the rarity of this disorder.
Symptoms
Children with CDD have at least two years of normal development in all areas—language understanding, speech, skill in the use of large and small muscles, and social development. After this period of normal growth, the child begins to lose the skills he or she has acquired. This loss usually takes place between ages three and four, but it can happen any time up to age ten.
The loss of skills may be gradual, but more often occurs rapidly over a period of six to nine months. The transition may begin with unexplained changes in behavior, such as anxiety, unprovoked anger, or agitation. Behavioral changes are followed by loss of communication, social, and motor skills. Children may stop speaking or revert to single words. They often lose bowel or bladder control and withdraw into themselves, rejecting social interaction with adults or other children. They may perform repetitious activities and often have trouble moving from one activity to the next.
In this way CDD resembles autism. In autism, however, previously acquired skills are not usually lost. According to the Handbook of Autism and Pervasive Developmental Disorders , virtually all children with CDD lose speech and social skills. About 90% lose self-help skills (the ability to feed, wash, and toilet themselves); and about the same number develop non-specific overactivity. After a time, the regression stops, but the child does not usually regain the skills that were lost.
Demographics CDD is a rare disease, much less common than autism. About 1 in 100,000 children are thought to have CDD. It is possible, however, that the disorder is under-diagnosed. For a long time, it was thought that CDD occurred equally among boys and girls. Newer research suggests that it is about four times more common in boys, and that many girls who were diagnosed with CDD actually had Rett's disorder , a disorder that shares many of the symptoms of CDD but occurs almost always in girls.
Diagnosis CDD is most commonly diagnosed when the parents of the affected child consult the pediatrician about the child'sloss of previously acquired skills. The doctor will first give the child a medical examination to rule out epilepsy or other medical conditions. The child'shead may also be x rayed to rule out head trauma or a brain tumor. Following the medical examinations and tests, the child will be referred to a psychiatrist who specializes in treating children and adolescents. The psychiatrist will then make the differential diagnosis of CDD.
To be diagnosed with CDD, a child must show loss or regression in at least two of the areas listed below. Usually regression occurs in more than two areas. These are:
receptive language skills (language understanding) expressive language skills (spoken language) social or self-help skills play with peers motor skills bowel or bladder control, if previously established Children with CDD are unable to start conversations with other people and often do not communicate with nonverbal signals (smiles, gestures, nodding the head, etc.) either. They also lose interest in playing games and in relationships with other people. They may engage in strange repetitive behavior, such as bobbing the head up and down, or other repeated movements. These changes must not be caused by a general medical condition or another diagnosed mental disorder.
CDD must be differentiated from autism and such other specific pervasive developmental disorders as Rett's disease. It also must be differentiated from schizophrenia . One of the differences between CDD and other PDDs is that to be diagnosed with CDD, a child must develop normally for at least two years before loss of skills occurs, and the loss must occur before age ten. Parents' reports of the child's development, records in baby books, medical records kept by the child's pediatrician, and home movies are often used to document normal development through the first two years of life. Treatments Treatment for CDD is very similar to treatment for autism. The emphasis falls on early and intense educational interventions. Most treatment is behavior-based and highly structured. Educating the parents so that they can support the child'streatments at home is usually part of the overall treatment plan. Speech and language therapy, occupational therapy, social skills development, and sensory integration therapy may all be used according to the needs of the individual child
Families with a child who has CDD often find themselves highly stressed. Practical demands on caregivers are high, and CDD takes an emotional toll on family members. Finding appropriate providers with experience delivering services for a child with CDD is sometimes difficult, especially outside large cities. Support groups for families can help reduce their isolation and frustration. Because CDD is rare, autism support groups and organizations include families of children with CDD in their services. Prognosis The prognosis for children with CDD is very poor; it is worse than the prognosis for children with autism. Once skills are lost, they are not usually regained. Only about 20% of children diagnosed with the disorder reacquire the ability to speak in sentences. Most adults with CDD remain dependent on full-time caregivers or are institutionalized.
Prevention Since the causes of CDD are unknown, there are no known ways to prevent this disorder.
Smith-Magenis syndrome also sounds pretty scary too, at least they have a genetic clue there:
Smith Magenis Syndrome NORD gratefully acknowledges Ann C.M. Smith, MA, DSc (Hon), Sr. Genetic Counselor/Contractor, SMS Research Studies, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, for assistance in the preparation of this report.
Synonyms of Smith Magenis Syndrome chromosome 17, interstitial deletion 17p Chromosome 17p11.2 deletion syndrome SMCR Smith-Magenis chromosome region retinoic acid induced 1 gene (RAI1) SMS General Discussion Summary
Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems. Common symptoms include distinctive facial features, skeletal malformations, varying degrees of intellectual disability, speech and motor delays, sleep disturbances, and self-injurious or attention-seeking behaviors. The specific symptoms present in each patients can vary dramatically from one individual to another. Approximately 90% of cases are caused when a portion of chromosome is missing or deleted (monosomic). This deleted portion within chromosome 17p11.2 includes the RAI1 gene, which is believed to play a major role in the development of the disorder. In the remaining cases, there is no deleted material on chromosome 17; these cases are caused by mutations in the RAI1 gene. Other genes within the deleted segment may also play a role in variable features in the syndrome, but it is not fully understood how significant a role they play in the development of SMS. In the remaining cases, there is no deleted material on chromosome 17; these cases are caused by mutations in the RAI1 gene.
Introduction
Smith-Magenis syndrome was first reported in the medical literature in 1982 by Ann Smith, a genetic counselor, and colleagues. In 1986, Smith and Dr. R. Ellen Magenis identified nine patients with the disorder further delineating the syndrome. Since that time numerous additional cases have been identified allowing physicians/clinicians to develop a better understanding about this complex neurodevelopmental disorder (NDD).
Market Data 
Markets 
