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Health Topics & Conditions

AUTISM

Autism is a complex developmental disability that affects an individual in the areas of social interaction and communication. Autism is a spectrum disorder that affects each individual differently and to varying degrees of severity. As many as 1.5 million Americans – children and adults – are thought to have autism today.

  • • Insistence on sameness; resistance to change
  • • Difficulty in expressing needs; uses gestures or pointing instead of words
  • • Repeating words or phrases in place of normal, responsive language
  • • Laughing, crying, showing distress for reasons not apparent to others
  • • Prefers to be alone; aloof manner
  • • Tantrums
  • • Difficulty in mixing with others
  • • May not want to cuddle or be cuddled
  • • Little or no eye contact
  • • Unresponsive to normal teaching methods
  • • Sustained odd play
  • • Spins objects
  • • Inappropriate attachments to objects
  • • Apparent over-sensitivity or under-sensitivity to pain
  • • No real fears of danger
  • • Noticeable physical over-activity or extreme under-activity
  • • Uneven gross/fine motor skills
  • • Not responsive to verbal cues; acts as if deaf although hearing tests in normal range.


Source: Autism Society of America

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ASPERGER’S SYNDROME

Asperger Syndrome or (Asperger’s Disorder) is a neurobiological disorder named for a Viennese physician, Hans Asperger, who in 1944 published a paper which described a pattern of behaviors in several young boys who had normal intelligence and language development, but who also exhibited autistic-like behaviors and marked deficiencies in social and communication skills. In spite of the publication of his paper in the 1940′s, it wasn’t until 1994 that Asperger Syndrome was added to the DSM IV and only in the past few years has AS been recognized by professionals and parents.

Individuals with AS can exhibit a variety of characteristics and the disorder can range from mild to severe. Persons with AS show marked deficiencies in social skills, have difficulties with transitions or changes and prefer sameness. They often have obsessive routines and may be preoccupied with a particular subject of interest. They have a great deal of difficulty reading nonverbal cues (body language) and very often the individual with AS has difficulty determining proper body space. Often overly sensitive to sounds, tastes, smells, and sights, the person with AS may prefer soft clothing, certain foods, and be bothered by sounds or lights no one else seems to hear or see. It’s important to remember that the person with AS perceives the world very differently. Therefore, many behaviors that seem odd or unusual are due to those neurological differences and not the result of intentional rudeness or bad behavior, and most certainly not the result of “improper parenting”.

By definition, those with AS have a normal IQ and many individuals (although not all), exhibit exceptional skill or talent in a specific area. Because of their high degree of functionality and their naiveté, those with AS are often viewed as eccentric or odd and can easily become victims of teasing and bullying. While language development seems, on the surface, normal, individuals with AS often have deficits in pragmatics and prosody. Vocabularies may be extraordinarily rich and some children sound like “little professors.” However, persons with AS can be extremely literal and have difficulty using language in a social context.

At this time there is a great deal of debate as to exactly where AS fits. It is presently described as an autism spectrum disorder and Uta Frith, in her book AUTISM AND ASPERGER’S SYNDROME, described AS individuals as “having a dash of Autism”. Some professionals feel that AS is the same as High Functioning Autism, while others feel that it is better described as a Nonverbal Learning Disability. AS shares many of the characteristics of PDD-NOS (Pervasive Developmental Disorder; Not otherwise specified), HFA, and NLD and because it was virtually unknown until a few years ago, many individuals either received an incorrect diagnosis or remained undiagnosed. For example, it is not at all uncommon for a child who was initially diagnosed with ADD or ADHD be re-diagnosed with AS. In addition, some individuals who were originally diagnosed with HFA or PDD-NOS are now being given the AS diagnosis and many individuals have a dual diagnosis of Asperger Syndrome and High Functioning Autism.

Qualitative impairment in social interaction, as manifested by at least two of the following:

  • • marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
  • • failure to develop peer relationships appropriate to developmental level
  • • a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest to other people)
  • • lack of social or emotional reciprocity


Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:

  • • encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
  • • apparently inflexible adherence to specific, nonfunctional routines or rituals
  • • stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
  • • persistent preoccupation with parts of objects


The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning

There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years)

There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than social interaction), and curiosity about the environment in childhood

Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia

Source: www.aspergersyndrome.org

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CEREBRAL PALSY

Cerebral palsy (CP) is a group of motor problems and physical disorders related to a brain injury. CP causes uncontrolled reflex movements and muscle tightness (spasticity) that may affect a part, a side, or the entire body, with varying severity. Several conditions, such as mental retardation, seizures, or vision and hearing problems, are often also associated with cerebral palsy.

Cerebral palsy is caused by a brain injury or problem that occurs during fetal growth, birth, or within the first 2 to 3 years of life. CP can result from:

  • • Complications related to prematurity.
  • • Being deprived of blood, oxygen, or other nutrients before or during birth.
  • • A serious head injury.
  • • Developing a serious infection that can affect the brain, such as meningitis.
  • • Some conditions that are passed from parent to child (genetic conditions) that are linked to abnormal brain development.


Source: Web MD

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DOWN SYNDROME

Down syndrome is a genetic condition that causes delays in physical and intellectual development. It occurs in approximately one in every 800 live births. Individuals with Down syndrome have 47 chromosomes instead of the usual 46. It is the most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals with Down syndrome is that they are more like others than they are different.

Down syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.

p>Down syndrome is usually caused by an error in cell division called nondisjunction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. It has been known for some time that the incidence of Down syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age.

Source: National Association for Down Syndrome

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MUSCULAR DYSTROPHY

Muscular dystrophy (MD) is a group of inherited diseases in which the muscles that control movement (called voluntary muscles) progressively weaken. In some forms of this disease, the heart and other organs are also affected.

There are nine major forms of muscular dystrophy:

  • • myotonic
  • • Duchenne
  • • Becker
  • • limb-girdle
  • • facioscapulohumeral
  • • congenital
  • • oculopharyngeal
  • • distal
  • • Emery-Dreifuss


MD can occur at different ages of a person’s life, ranging from infancy to middle age or later. The type of the disease is based in part on when in a person’s life MD appears, as well as the severity of the muscle weakness, which muscles are affected, the rate of symptom progression, and the way the disease arises. Some forms affect only males; others affect both males and females. Some sufferers still enjoy a normal life span with mild symptoms that progress very slowly, while others experience fast and severe muscle weakness and wasting, dying in their late teens to early 20s.

The various types of MD affect more than 50,000 Americans. Through advances in medical care, children with muscular dystrophy are living longer than ever before.

Until the 1980′s little was known about the cause of any type of muscular dystrophy. We now know that MD is caused by defects in certain genes. The type of MD is determined by which gene is defective. In 1986, researchers discovered the gene that, when defective or flawed, causes Duchenne muscular dystrophy. In 1987, the muscle protein associated with this gene was called dystrophin. Duchenne MD occurs when that gene fails to make dystrophin. Becker MD occurs when a different mutation in the same gene results in having some dystrophin, but it’s either not enough or it’s poor in quality. Scientists have discovered and continue to search for the genetic defects that cause other forms of muscular dystrophy.

Most of the muscular dystrophies are a form of inherited disease called X-linked disorders or genetic diseases that mothers can transmit to their sons even though the mothers themselves are unaffected by the disease.

Men carry one X chromosome and one Y chromosome. Females carry two X chromosomes. Thus, in order for a girl to become affected by muscular dystrophy, both of her X chromosomes would have to carry the defective gene — an extremely rare occurrence, since her mother would have to be a carrier (one defective X chromosome) and her father would have to have muscular dystrophy (since men carry just one X chromosome, the other is a Y chromosome.)

A female who carries the defective X chromosome can pass the disease to her son (whose other chromosome is a Y, from the father).

A few muscular dystrophies aren’t inherited at all and occur because of a new gene abnormality or mutation.

Sources: The Mayo Clinic, Muscular Dystrophy Association, National Institute of Arthritis and Musculoskeletal and Skin Diseases

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SENSORY INTEGRATION

Children with sensory integration dysfunction have difficulty processing information from the senses (touch, movement, smell, taste, vision, and hearing) and responding normally to that information. These children typically have one or more senses that either over- or underreact to stimulation. Sensory integration dysfunction can cause problems with a child’s development and behavior.

Children with autism and other developmental disabilities often have sensory integration dysfunction. However, sensory integration dysfunction can also be associated with premature birth, brain injury, learning disorders, and other conditions.

The exact cause of sensory integration dysfunction is not known. It is commonly seen in people with autism, Asperger’s syndrome, and other developmental disabilities. Most research suggests that people with autism have irregular brain function. More study is needed to determine the cause of these irregularities, but current research indicates they can be inherited.

Source: Web MD

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SENSORY PROCESSING

Sensory processing (sometimes called “sensory integration” or SI) is a term that refers to the way the nervous system receives messages from the senses and turns them into appropriate motor and behavioral responses. Whether you are biting into a hamburger, riding a bicycle, or reading a book, your successful completion of the activity requires processing sensation or “sensory integration.”

Sensory Processing Disorder (SPD, formerly known as “sensory integration dysfunction”) is a condition that exists when sensory signals don’t get organized into appropriate responses. Pioneering occupational therapist and neuroscientist A. Jean Ayres, PhD, likened SPD to a neurological “traffic jam” that prevents certain parts of the brain from receiving the information needed to interpret sensory information correctly. A person with SPD finds it difficult to process and act upon information received through the senses, which creates challenges in performing countless everyday tasks. Motor clumsiness, behavioral problems, anxiety, depression, school failure, and other impacts may result if the disorder is not treated effectively.

Research by the SPD Foundation indicates that 1 in every 20 children experiences symptoms of Sensory Processing Disorder that are significant enough to affect their ability to participate fully in everyday life. Symptoms of SPD, like those of most disorders, occur within a broad spectrum of severity. While most of us have occasional difficulties processing sensory information, for children and adults with SPD, these difficulties are chronic, and they disrupt everyday life.

Source: SPD Foundation

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