Autism

Parenting Weekly

Autism is one of five disorders under the general classification of Pervasive Developmental Disorders (PDD), a category of neurological disorders characterized by severe and pervasive impairment in several areas of development. Autism is a spectrum disorder, meaning it affects everyone differently; some are mildly affected, but most are significantly impaired and require lifelong supervision and care. Many children with autism will never be able to tell their parents they love them.

Autism is the most common of the Pervasive Developmental Disorders, affecting an estimated 1 in 166 births according to the Centers for Disease Control Prevention. This means that as many as 1.5 million Americans have some form of autism, making it the second most common developmental disability after mental retardation. According to statistics from the U.S. Department of Education and other governmental agencies, autism is growing at a startling rate of 10 to 17 percent per year. Yet despite the strikingly high and increasing prevalence, autism research remains one of the lowest funded areas of medical research by both public and private sources.

There is no known single cause for autism, but brain scans show differences in the shape and structure of the brain in autistic children. Researchers are investigating a number of theoretical causes, including a possible link between heredity, genetics and other medical problems. While no single gene has been identified as causing autism, there appears to be a pattern of autism or related disabilities in many families, further supporting a genetic basis to the disorder.

Autism can usually be detected by the time a child is 3 years old, and in some cases as early as 18 months; however, it is estimated that only 50 percent of children are diagnosed before kindergarten. In some children, hints of future problems may be apparent from birth; but in most cases the problems in communication and social skills become more noticeable as the child lags further behind other children the same age. Some parents report the change as being sudden; in other cases, there is a gradual leveling of development. All children with Autism Spectrum Disorders (ASD) demonstrate deficits in social interaction, verbal and nonverbal communication, and repetitive behaviors or interests. In addition, they often have unusual responses to sensory experiences, such as certain sounds or the way objects look. A child may be autistic if he or she:

• Does not respond to his or her name
  
• Loses language or social skills
  
• Makes poor eye contact
  
• Doesn't seem to know how to play with toys, excessively organizes toys, or is overly attached to one particular toy or object
  
• Doesn't smile
  
• Insists on sameness and is resistant to change
  
• Repeats words or phrases in place of normal, responsive language
  
• Laughs (and/or cries) for no apparent reason, and shows distress for reasons not apparent to others
  
• Has difficulty socializing with others, prefers to be alone; is aloof
  
• Throws excessive tantrums
  
• Does not want to cuddle or be cuddled
  
• Is over-sensitive or under-sensitive to pain
  
• Does not display any real fear of danger
  
• Displays physical over-activity or extreme under-activity
  
• Develops uneven gross/fine motor skills
  
• Is unresponsive to verbal cues; acts as if deaf, although hearing tests in normal range.

Autistic children need, and demand, absolute consistency in their environment. A slight change in any routine - mealtimes, dressing, bathing, or the route taken to school - can be extremely disturbing. Many are highly attuned or even painfully sensitive to certain sounds, textures, tastes, and smells. The brain also seems unable to balance the senses appropriately; some autistic children are oblivious to extreme cold or pain, and may fall and break an arm, yet never cry. Another may bash his head against a wall and not wince, but a light touch may make him scream with alarm.

Diagnosis and Treatment
When evaluating a child, clinicians rely on observed behavior to make a diagnosis, and the parents' own experience and concerns are essential in helping to screen the child. If any of the possible indicators of ASD are found, further comprehensive evaluation by a team of specialists is necessary in order to accurately diagnose or rule out an ASD or other developmental problem. Every state guarantees special education and related services for children with ASD. The Individuals with Disabilities Education Act (IDEA) is a federally mandated program that assures free and appropriate public education for children with diagnosed learning deficits.

An effective treatment program should build on the child's interests, provide a predictable schedule, teach tasks as a series of simple steps, actively engage the child's attention in highly structured activities, and provide regular reinforcement of behavior. Parental involvement is a major factor in treatment success and more programs are beginning to train parents to continue the therapy at home. The degree of independence and integration into mainstream society an autistic individual is capable of ultimately depends on the degree of their autism and the level of therapy they receive.

Down Syndrome

Parenting Weekly

Down syndrome is the most common chromosomal disorder, affecting one in every 800 live births. Individuals with Down syndrome are born with three copies of chromosome 21 (another name for Down syndrome is trisomy 21) giving them 47 chromosomes instead of the usual 46.

Individuals with Down syndrome have decreased mental abilities and health problems, including hearing deficits, heart problems, intestinal abnormalities, eye problems, low levels of thyroid hormone, skeletal problems such as joint instability, and poor weight gain in infants. They also develop leukemia more often than those without Down syndrome and have increased risk of infection, problems with the immune system, skin disorders, and seizures. Many Down syndrome babies are suspected of having the condition shortly after birth based on certain physical characteristics. These characteristics can vary greatly between individuals, but generally include:

• Low muscle tone (muscle hyptonia)

• Flat facial profile with a slightly depressed nasal bridge and small nose

• An upward slant to the eyes (oblique palpebral fissures)

• Abnormal ear shape (dysplastic ear)

• A single deep crease across the center of the palm

• Hyperflexibility

• The fifth finger has one flexion furrow instead of two (dysplastic middle phalanx of the fifth finger)

• Small skin folds on the inner corner of the eyes (epicanthal folds)

• Excessive space between large and second toe

• Large tongue relative to overall mouth size

Diagnosis of Down syndrome is usually confirmed by a blood test which looks for the extra chromosome. The condition may also be diagnosed during pregnancy using amniocentesis, CVS (chorionic villus sampling), or Percutaneous Umbilical Blood Sampling (PUBS).

There is no way to prevent Down syndrome. The chance of having a child with Down syndrome increases with the mother's age, and some researchers suggest that the father's age may also increase the risk. As a woman (and her eggs) age, there is a greater chance that the chromosomes contained in a fertilized egg may divide improperly. At age 35, a woman's risk of having a baby with Down syndrome is 1 in 385. At age 40, the risk is 1 in 106; and by age 45, the risk is 1 in 30. However, most children with Down syndrome are actually born to women under age 35 because they have many more babies. Parents who already have a child with Down syndrome are more likely to have another child with the condition.

There is no cure for Down syndrome. However, physical therapy, special education programs, and medical procedures can address some of the problems associated with the condition and can significantly improve the individual's quality of life, developmental possibilities, and life expectancy. The majority of Down syndrome individuals born today will live past 55 years old and many can achieve semi-independent lives.

If your baby has been diagnosed with Down syndrome, your can find research updates, parent resources, and community support from the National Down Syndrome Society.