Dr. Roxanne Dryden-Edwards is an adult, child, and adolescent psychiatrist. She is a former Chair of the Committee on Developmental Disabilities for the American Psychiatric Association, Assistant Professor of Psychiatry at Johns Hopkins Hospital in Baltimore, Maryland, and Medical Director of the National Center for Children and Families in Bethesda, Maryland.
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Because many different disorders can result in autism, this question is
complex. Certainly, disorders such as the fragile X syndrome and tuberous
sclerosis, which are both associated with autism, are inherited. There are many
families with more than one child with autism where the autism is not clearly due
to another cause. Recent studies have found that the gene for at least one kind
of familial autism may be on chromosome 13. In some families, autism seems to be
passed from generation to generation. In other families, autism is not found in
prior generations, but affects multiple siblings (brothers or sisters). The
results of this research makes it likely that at least one "autism gene" will
eventually be
found.
However, the majority of individuals with autism do NOT have a
strong family history, which supports the premise that environmental or a
combination of environmental and genetic factors contribute to the development
of autism. In this context, environmental is meant to indicate any non-genetic
factor, including infections, toxins, nutrition, or others.
How is autism diagnosed in children and
adults?
The essential features of autism are the significantly impaired or abnormal
development of communication and social interaction and the abnormally
restricted repertoire of behaviors, activities, and interests. This disturbance
in normal development must manifest itself prior to age three. While many
parents report normal development in the first year of the child, there is
actually limited opportunity to observe this, as the child is often not brought
to the attention of a practitioner who has specific experience in diagnosing
autism until several years later in many cases. If there is a period of normal
development, it cannot extend past age three. As the early onset of the disorder
is a key component in its diagnosis, it is important that practitioners screen
for the possible presence of autism in all children from infancy on.
Any person with a delay or regression (loss) of language or an abnormality of
social interaction beginning prior to the age of three may be suspected of being
autistic. The medical evaluation begins with a thorough medical history and
physical examination. This examination should be performed by a practitioner not
only familiar with autism, but with other disorders that may appear similar to
or mimic the symptoms of autism. The practitioner should have particular
expertise in the neurological examination of impaired individuals, as subtle
findings may lead the examiner down a particular diagnostic path. For example,
the presence of mild weakness or increased reflexes on one side of the body will
lead the examiner to conclude that a structural abnormality in the brain is
present and that an MRI examination of the brain is appropriate.
The history and physical examination will point the examiner to specific
diagnostic testing to evaluate for other conditions associated with autism or
developmental delay. Any child who has a language delay should have his or her
hearing formally evaluated. It is not sufficient to simply determine whether or
not a person being examined is able to hear. In order for normal language
development to proceed, the individual must have sufficient hearing capabilities
at low volumes in the high frequency range. Therefore, even if the person turns
his or her head to a clap or shout, he or she may still have enough of a hearing
deficit to inhibit language development.
There are two types of hearing tests;
1) behavioral audiometry; and 2) brainstem auditory evoked responses (BAER).
Behavioral
audiometry is performed by a skilled clinical audiologist. The person being
examined is placed in a room and his or her responses to different tones are
observed.
For the brainstem auditory evoked responses (BAER) test, the individual is sedated and earphones are placed over
the ears. Tones of different volumes and frequencies are played and the
electrical response of the brain is monitored.
If the he or she is capable,
behavioral audiometry is the preferred method primarily because sedation is not
required. Depending upon specific features of the examination and history, the
practitioner may want to obtain blood and urine samples for specialized testing
to evaluate for some of the inborn errors of metabolism and to obtain DNA for
chromosomal studies and fragile X testing.
If the neurological examination is normal, there may be no need for a
brain CT scan or MRI scan. However, if the neurological examination is
suggestive of a structural brain lesion, then a neuroimaging study, preferably
an MRI, should be performed. Newer imaging procedures such as
SPECT or
PET scans
are used primarily as research tools and have no place in the initial evaluation
of the autistic individual. In very specialized instances, such as the autistic
person with difficult-to-control seizures, such tests may be useful.
The evaluation of individuals with autism by speech pathologists will provide not only detailed information as to the nature of the language deficits incurred by the afflicted individual, but will also be the first step in formulating a specific treatment plan with respect to language. Occupational assessment may be particularly helpful in determining the day-to-day strengths and vulnerabilities of the individual with autism (for example, sensitivity to clothing and food texture) and assist those who care for the person in promoting his or her strengths and compensating for their challenges.
Given the complex and far-reaching symptoms and effects of autism, it is generally thought that the most accurate and thorough diagnosis of this disorder is obtained by group of practitioners from various disciplines, also called a multidisciplinary team, that includes a pediatrician, speech and occupational therapists, educators, and often psychiatrists and others.
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing, reading, speaking, reasoning, and performing mathematics. There is no cure for learning disabilities. Parents and teachers working together to properly diagnose learning disabilities can properly plan a course of education. For some, medication may be appropriate as complimentary treatment.
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Learn about mitochondrial disease, genetic disease in which include a group of neuromuscular diseases that are caused by damage to the mitochondria Common mitochondrial myopathies include Kearns–Sayre syndrome, myoclonus epilepsy, and mitochondrial encephalomyopathy. Symptoms of mitochondrial disease include heart failure, exercise intolerance, dementia, muscle weakness, movement disorders, deafness, blindness, stroke-like episodes, and more. There is no specific treatment for mitochondrial disease.
Seizures are divided into two categories: generalized and partial. Generalized seizures are produced by electrical impulses from throughout the brain, while partial seizures are produced by electrical impulses in a small part of the brain. Seizure symptoms include unconsciousness, convulsions, and muscle rigidity.
Good parenting helps foster empathy, honesty, self-reliance, self-control, kindness, cooperation, and cheerfulness, says Steinberg, a distinguished professor of psychology at Temple University in Philadelphia. It also promotes intellectual curiosity, motivation, and desire to achieve. It helps protect children from developing anxiety, depression, eating disorders, antisocial behavior, and alcohol and drug abuse.
Asperger syndrome (AS, Asperger's syndrome) is an autism spectrum disorder. Asperger syndrome is characterized by a degree of impairment in language and communication skills, and repetitive or restrictive thoughts or behaviors. The most common symptom of Asperger syndrome is the obsessive interest in a single object or topic. Other conditions that may co-exist with Asperger syndrome include: ADHD, tic disorders, depression, anxiety disorders, and OCD. Diagnosis of Asperger syndrome is complicated, and treatment is generally directed toward minimizing the symptoms of the syndrome and behavioral and educational interventions.
Pervasive development disorders (PPDs) are conditions involving developmental delays in children. There are five types of PDDs: autism, Asperger's syndrome, childhood disintegrative disorder, Rett's syndrome, and pervasive development disorders not otherwise specified (PDDNOS).
Children's health is focused on the well-being of children from conception through adolescence. There are many aspects of children's health, including growth and development, illnesses, injuries, behavior, mental illness, family health and community health.
Landau-Kleffner syndrome (LKS, infantile acquired aphasia, acquired epileptic aphasia, or aphasia with convulsive disorder), a childhood disorder that occurs between the ages of 3 and 7, is characterized by the sudden loss of speech, epileptic seizures, depression, hyperactivity, and aggressiveness.
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