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Diseases » Autism » Glossary
 

Glossary for Autism

  • $18p minus syndrome$: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • ADHD: Attention Deficit Hyperactivity Disorder (ADHD) is a mental and behavioral disorder characterized by behavioral problems such as hyperactivity, inattention, concentration difficulty, and other mental symptoms. Typically, ADHD and associated hyperactivity is known as a childhood disorder, although ADD/ADHD in adults is known to be under-diagnosed. It is distinguished from Attention Deficit Disorder (ADD) which has a reduced focus on hyperactivity type symptoms.
  • Allergies: Immune system over-reaction to various substances.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Asperger syndrome: A neuropsychiatric disorder mainly involving the inability to understand and becoming involved in social interaction.
  • Attention Deficit Hyperactivity Disorder: Behavioral disorder with hyperactivity and/or inattention.
  • Auditory Processing Disorder: Failure of the brain to correctly process sound.
  • Autism, X-linked, susceptibility to, 1: An inherited susceptibility to autism linked to a defect on chromosome Xq13 (NLGN3 gene).
  • Autism, X-linked, susceptibility to, 2: An inherited susceptibility to autism linked to a defect on chromosome Xp22.33 (NLGN4 gene).
  • Autism, X-linked, susceptibility to, 3: An inherited susceptibility to autism linked to a defect on chromosome Xq28 (MECP2 gene).
  • Autism, susceptibility to, 1: An inherited susceptibility to autism linked to a defect on chromosome 7q22.
  • Autism, susceptibility to, 10: An inherited susceptibility to autism linked to a defect on chromosome 7q36.
  • Autism, susceptibility to, 11: An inherited susceptibility to autism linked to a defect on chromosome 1q24.
  • Autism, susceptibility to, 12: An inherited susceptibility to autism linked to a defect on chromosome 21p13-q11.
  • Autism, susceptibility to, 13: An inherited susceptibility to autism linked to a defect on chromosome 12q14.
  • Autism, susceptibility to, 14: An inherited susceptibility to autism linked to a defect on chromosome 16p11.2.
  • Autism, susceptibility to, 3: An inherited susceptibility to autism linked to a defect on chromosome 13q14.
  • Autism, susceptibility to, 4: An inherited susceptibility to autism linked to a defect on chromosome 15q11.
  • Autism, susceptibility to, 5: An inherited susceptibility to autism linked to a defect on chromosome 2q.
  • Autism, susceptibility to, 6: An inherited susceptibility to autism linked to a defect on chromosome 17q11.
  • Autism, susceptibility to, 7: An inherited susceptibility to autism linked to a defect on chromosome 17q21.
  • Autism, susceptibility to, 8: An inherited susceptibility to autism linked to a defect on chromosome 3q25-q27.
  • Autism, susceptibility to, 9: An inherited susceptibility to autism linked to a defect on chromosome 7q31.
  • Behavioral disorders: Disorders affecting behavior and emotional wellbeing
  • Behavioral symptoms: Symptoms of personal behavior.
  • Brain conditions: Medical conditions that affect the brain
  • Childhood disintegrative disorder: A rare disorder where a period of normal development (a couple of years) is followed by delays in the development of motor, social and language skills. Previously acquired skills are lost.
  • Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
  • Chromosome 17 trisomy mosaicism: A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms.
  • Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
  • Chromosome 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deafness: Inability to hear sounds.
  • Del(1) (pter-p35): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
  • Deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Depression: Various syndromes with excessive anxiety, phobias, or fear.
  • Developmental problems: Physical or mental development difficulty.
  • Digestive symptoms: Any symptoms affecting the digestive tract.
  • Elective mutism: A rare psychiatric disorder where a child chooses not to speak in a social setting even though they are capable of speaking and often do so at home.
  • Emotional symptoms: Symptoms affecting the emotions.
  • Epilepsy: Brain condition causing seizures or spasms.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Heckenlively syndrome: A rare syndrome characterized by eye anomalies, behavioral problems and abnormal amino acid metabolism.
  • Impulse Control Disorders: Disorders where people have difficulty controlling their impulses
  • Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Landau-Kleffner Syndrome: A neurological disorder which results in aphasia, epileptic seizures and inability to recognize sounds.
  • Learning disabilities: Various developmental problems impairing learning or schooling.
  • Mental illness: Any psychological syndrome
  • Mental retardation - dysmorphism - hypogonadism - diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Microdeletion 3q29: A rare chromosomal disorder where a small portion of chromosome 3 is missing. The main features of the syndrome are mental retardation and slightly unusual facial appearance.
  • Monosomy 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Mood disorders: Disorders that affect a persons mood
  • Neurosis: Variety of mental disorders with self-awareness
  • Obsessive-compulsive disorder: Behavioral disorder with obsessive thoughts and compulsive acts.
  • PTEN Hamartoma Tumor Syndrome: PTEN Hamartoma Tumor Syndrome is a group of conditions caused by a mutation in the PTEN gene. The primary characteristic of the condition is the development of multiple hamartomas (tumor-like growth) in virtually any part of the body. The growths are generally not cancerous but patients often have an increased risk of developing various cancers. Specific conditions covered by this term are Cowden syndrome, BAnnayan-Riley-Ruvalcaba Syndrome and Proteus syndrome.
  • Personality disorders: A group of psychiatric disorders that are characterised but abnormal dysfunctional personalities
  • Pervasive developmental disorders: Group of developmental disorders often recognized before 3 years of age.
  • Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
  • Possibly Autoimmune Diseases: Diseases that may be autoimmune or have an autoimmune subtype, but it is unclear or controversial.
  • Psychiatric disorders: Any condition that affects ones mind
  • Psychological disorders: Any condition that affects ones mind
  • Psychosis: Mental loss of connection with reality
  • Rett's syndrome: Autism-like behavioral syndrome in infant girls
  • Rubella congenital syndrome: The transplacental infection of a fetus with rubella
  • Schizoid Personality Disorder: A personality disorder which is characterized by long term emotional coldness, indifference and criticism of others.
  • Schizophrenia: Psychiatric disorder with delusional beliefs and hallucinations.
  • Schizotypal Personality Disorder: A personality disorder which is characterized by long term emotional coldness, indifference and criticism of others.
  • Seizures - intellectual deficit due to hydroxylysinuria: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Sleep disorders: Any disorder that affects ones sleep
  • Smile symptoms: Unusual smiles or lack of smiling
  • Social problems: Difficulty relating to other people
  • Speech symptoms: Problems with speech or voice.
  • Tourette Syndrome: A neurological disorder involving vocal and movement tics where where uncontrollable movements or verbal utterances are made.
  • Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
  • WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
  • Wilms tumor - aniridia - genitourinary anomalies - mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.


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