II. History

  1. First described in 1943 by psychiatrist Leo Kanner

III. Epidemiology

  1. Gender predominance: Males by 2 to 4:5 ratio
  2. Prevalence
    1. Pervasive Developmental Disorder: 63 per 10,000
    2. Autism prevalance if sibling has Autism: 3-7%
    3. Autism Spectrum Disorders diagnoses have increased in U.S. markedly over time
      1. Prevalence 1996: One in 294 (3.4 per 1000)
      2. Prevalence 2002: One in 151 (6.6 per 1000)
      3. Prevalence 2006: One in 111 (9 per 1000)
      4. Prevalence 2008: One in 88 (11.3 per 1000)
      5. Prevalence 2012: One in 68 (14.6 per 1000)
      6. Christensen (2016) MMWR Surveill Summ 65(3): 1-23 [PubMed]
        1. https://www.cdc.gov/mmwr/volumes/65/ss/ss6503a1.htm
    4. Autism increased Prevalence causes
      1. Increased diagnosis (DSM 5 criteria, well child screening, social awareness, school screening)

IV. Pathophysiology

  1. Information processing is disordered
  2. Weak central coherence
    1. Only details seen (not greater picture)

V. Risk Factors

  1. Advanced maternal age and paternal age
  2. Maternal conditions
    1. Gestational Diabetes Mellitus
    2. Maternal Hypertension
    3. Maternal Obesity
  3. Maternal infections
    1. Rubella infection
    2. Cytomegalovirus infection
    3. Herpes Simplex Virus Infection
  4. In Utero exposures
    1. Thalidomide
    2. Valproate
    3. Pesticides
    4. Traffic-related Air Pollution
  5. Syndromes
    1. Tuberous sclerosis
    2. Untreated Phenylketonuria
    3. Fragile X Syndrome
    4. Down Syndrome
    5. Fetal Alcohol Syndrome
  6. Other associated factors
    1. Anoxic brain injury
    2. Low birth weight
    3. Preterm delivery
  7. Disproved factors (not associated with Autism)
    1. Mercury preserved Vaccines
    2. Yeast infection
    3. Celiac Sprue
    4. Casein allergy
    5. Measles Mumps Rubella Vaccine (MMR)
      1. Taylor (1999) Lancet 353:2026-9 [PubMed]
      2. DeStafano (2000) J Pediatr 136:125-6 [PubMed]

VI. Causes

  1. Idiopathic (80% of cases)
  2. Genetic predisposition contributes to 50% of patients
  3. Multifactorial (numerous mutations)

VII. Types: Autism Spectrum Disorders

  1. Autism Spectrum Disorders (encompasses 4 previously separate diagnoses)
    1. Autistic disorder (classic childhood Autism)
      1. Unlikely to function independently as adults
    2. Asperger Disorder
      1. Social deficits, narrow interests and clumsiness
      2. IQ exceeds 70
    3. Disintegrative Disorder
      1. Normal development until age 2 to 10 years
      2. Sudden and dramatic regression
        1. Affects social, verbal and cognitive skills
        2. Permanent deficits
    4. Pervasive Developmental Delay (PDD), not otherwise specified
      1. Autism not consistent with other subtypes
  2. Other conditions
    1. Rett Syndrome
      1. X-linked trait and only occurs in girls
      2. Severe Mental Retardation and unable to walk or talk
      3. Associated with Epilepsy

VIII. Associated Conditions

  1. Intellectual Disability (20-50% Prevalence)
  2. Maladaptive Behaviors
    1. Self-Injury Behavior
    2. Aggressive Behavior
  3. Seizure Disorder (11-26% Prevalence)
    1. Screening with EEG is not recommended unless signs, symptoms suggest this
    2. Have a high index of suspicion for Epilepsy in autistic patients
    3. Risk increases with girls and if comorbid Intellectual Disability
  4. Gastrointestinal disorders
    1. Chronic or recurrent Abdominal Pain
    2. Diarrhea
    3. Constipation
    4. May provoke daytime behavior problems (see maladaptive behaviors above)
  5. Insomnia and other sleep disorders (50-80% of cases)
    1. Circadian rhythm disturbance
    2. Periodic Limb Movements of sleep
  6. Psychiatric conditions including Mood Disorders (63-96%)
    1. Major Depression
    2. Anxiety Disorder
    3. Bipolar Disorder
    4. Obsessive-Compulsive Disorder
    5. Attention Deficit Hyperactivity Disorder
  7. Motor disorders (51% at diagnosis, decreases to 38% of patients over time)
    1. Hypotonia
    2. Apraxia (poor motor planning)
    3. Clumsiness
    4. Toe walking
    5. Gross motor deficits
    6. Clumsiness

IX. Symptoms: General

  1. Language deficits or regression (see below)
  2. Social skills impaired
    1. Social orienting absent (by age 9-12 months)
      1. Does not turn and make eye contact on hearing his or her name called
    2. Joint attention absent (by age 12-15 months)
      1. Not able to coordinate own attention between another person and a distant object (shared attention)
      2. Does not turn and look at an object across room as directed by medical provider or caregiver
    3. Imperative pointing absent (by age 12-15 months)
      1. Does not point to request an object
    4. Declarative pointing absent (by age 18-24 months)
      1. Does not point for experience sharing
    5. Pretend play absent (by age 24 months)
  3. Inflexible
    1. Temper tantrums for changed routine
    2. Unimaginative monotonous play
    3. Intolerant of change in routine
  4. Sensory deficit
    1. Sound intolerance
    2. Gaze aversion
    3. Child stares at shadows
  5. Restricted interest
    1. Unusual play (may focus on only a small part of a toy)
    2. Carries unusual comfort item (e.g. stick or rock)
  6. Repetitive purposeless movements
    1. Provocative: Stress
    2. Palliative: Decreases as children grow older
    3. Examples of stereotypical movements
      1. Repeatedly lines up objects in a row
      2. Hand flapping
      3. Toe walking
      4. Finger flicking near their eyes
      5. Rocking
      6. Pacing

X. Symptoms: Language deficits suggesting Autism

  1. All ages
    1. Language regression (ominous sign)
    2. Child will not turn to name
    3. Difficulties with language comprehension
    4. Mutism with rare spontaneous clear speech
  2. Infants (9 months)
    1. No babbling
    2. Does not take turns vocalizing back and forth
    3. Lacks variation in vocalizing
    4. Fails to wave bye bye
    5. Does not raise arms overhead to be lifted
    6. Fails to respond to caregiver's voice or environmental sounds
    7. Makes unusual or high pitched sounds
  3. Toddlers
    1. Child does not point by one year
    2. Child does not speak words by 14 months
    3. Vocabulary includes less than 12 words by 18 months
    4. No two word sentences by 24 months
    5. No sentences by 36 months
    6. Delayed shake or nod to signify yes or no answers
  4. Preschool and older children
    1. Child does not answer questions
    2. Child "talks to talk," but does not communicate
    3. Echolalia (esp. if only form of language at 24 months of age)
    4. Confuses pronouns (e.g. You and Me)
    5. Refers to self by name
    6. Child repeats overlearned expressions verbatim
    7. Child perseverates on a single favorite topic
    8. Unable to tell a story coherently
    9. Robotic, monotonous speech
      1. High-pitched
      2. Sing-song
      3. Lack of inflection

XI. Evaluation

  1. Clinical evaluation
    1. Careful history and physical
    2. Careful Neurologic Exam
    3. Hearing Testing
  2. General Developmental Screening
    1. Parents' Evaluation of Developmental Status (PEDS)
    2. Ages and Stages Questionnaire (ASQ)
    3. Infant Development Inventory (IDI) and Child Development Review (CDR)
  3. Specific Autism Screening
    1. Indications for immediate evaluation
      1. Language or social regression
      2. Age 12 months: No babbling, pointing or gestures
      3. Age 16 months: No single words
      4. Age 24 months: No 2 word spontaneous phrases
    2. Tests
      1. Modified Checklist for Autism in Toddlers (M-CHAT)
        1. High efficacy, public domain survey and most widely used
        2. Poor Positive Predictive Value (and high False Positive Rate) when used alone without other evaluation
      2. Modified Checklist for Autism in Toddlers - Revised with follow-up (M-CHAT-R/F)
        1. Two staged parent reported screening tool
        2. http://mchatscreen.com/wp-content/uploads/2015/09/M-CHAT-R_F.pdf
      3. Pervasive Developmental Disorders Screening (PDDST)
        1. Publisher: Porter Psychiatric Institute
        2. Phone: 415-476-7385
      4. Autism Screening Questionnaire
      5. Australian Scale for Asperger Syndrome
  4. Formal diagnostic testing
    1. Autism Diagnostic Observation Schedule, 2nd ed
    2. DSM V Criteria (see below)

XII. Differential Diagnosis: Autism

  1. Other Pervasive Developmental Disorder (see above)
  2. Selective Mutism
  3. Stereotypic Movement Disorder
  4. Childhood onset Schizophrenia

XIII. Labs (if indicated)

  1. Fragile X Testing
  2. Lead Level
  3. Urine for Phenylketonuria (if not screened as newborn)

XIV. Diagnosis: Autism Spectrum Disorder (DSM V)

  1. Persistent deficits in social communication and social interaction across multiple contexts
    1. Social-emotional reciprocity deficits (e.g. failed 2-way conversation, lacks shared interests, emotions, affect)
    2. Nonverbal communication deficits (e.g. abnormal eye contact, body language, gestures, lack of facial expression)
    3. Relationship deficits (e.g. difficulty making friends, sharing imaginative play, lack of interest in peers)
  2. Restricted, repetitive patterns of behavior, interests or activities as manifested by at least 2 of the following
    1. Repetitive movement or speech (e.g. lines up toys, repeatedly flips objects, Echolalia or repeated phrases)
    2. Adheres rigidly to routine, ritualized behavior (e.g. distress with small changes or transitions, rigid thinking, same meals)
    3. Restricted, fixated interests (e.g. attachment to unusual objects, Perseveration about certain interests)
    4. Hyper- or hypo-reactivity sensory response (e.g. indifferent to pain/temp, intolerance to specific sounds/textures)
  3. Symptoms start in early development (but may fully manifest later with increasing social demands)
  4. Symptoms cause Clinically Significant social, occupational or other functional Impairment
  5. Not explained by Intellectual Disability or global developmental disorder
  6. Severity
    1. Level 3 (Requires very substantial support)
      1. Social communication deficits: Minimal social interaction, primarily unintelligible speech
      2. Restricted/repetitive behaviors: Inflexible behavior, cannot cope with change, impaired global function
    2. Level 2 (Requires substantial support)
      1. Social communication deficits: Limited communication (e.g. simple sentences), special interests, odd behavior
      2. Restricted/repetitive behaviors: Restricted, repetitive behaviors interfere with function, poorly copes with change
    3. Level 1 (Requires support)
      1. Social communication deficits: Speaks in full sentences and communicates, but 2-way fails, trouble making friends
      2. Restricted/repetitive behaviors: Inflexible behavior, difficulty switching between activities, planning, organization
  7. Additional features
    1. With or without intellectual Impairment
    2. With or without language Impairment
    3. Associated with known medical condition, genetic condition or environmental factor
    4. Associated with another neurodevelopmental, mental or behavioral disorder
    5. With Catatonia
  8. Consider other conditions if Autism Spectrum Disorder criteria not met
    1. Pragmatic or Social Communication Disorder
      1. Severe social communication deficits without meeting ASD criteria
  9. References
    1. (2013) DSM 5, APA, Washington, p. 50-1

XV. Diagnostics (if indicated)

  1. Deep Sleep EEG

XVI. Evaluation: Interaction pearls (at medical encounters)

  1. Interview parents aside first
    1. Learn about the child's likes and dislikes
    2. Identify where on Autism spectrum child lies
    3. What works and does not work for behavioral and medical management
  2. Allow for a controlled, quiet, calm environment
    1. Minimize distractions and loud noises
  3. Prepare children in advance for pending interventions
    1. Talk to the child (even if non-verbal)
    2. Allows for adequate processing time (delayed in Autism)
  4. References
    1. Claudius in Majoewsky (2012) EM:Rap 13(1): 4

XVII. Management: Nonpharmacologic

  1. Arrange a multidisciplinary team
    1. Audiologist
    2. Developmental pediatrician or pediatric neurologist
    3. Genetic counselor (evaluate for associated syndromes)
    4. Occupational therapist
    5. Speech pathologist
    6. Social worker
    7. Child psychiatrist
    8. Child psychologist
  2. Early intervention
    1. Early and intensive interventions significantly improve longterm functioning and IQ
      1. Initiate before age 3
      2. Intensive treatment for 25-40 hours per week for at least 1 year
      3. Eldevik (2008) J Clin Child Adolesc Psychol 38(3): 439-50 [PubMed]
      4. Rogers (2008) J Clin Child Adolesc Psychol 37(1): 8-38 [PubMed]
    2. Teach communication and socialization skills
      1. Targeted play
      2. Social skills training (if no intellectual dysfunction)
    3. Augmented communication (e.g. letter board)
    4. Behavioral modification
      1. Structured environment
      2. Respond consistently to behaviors
        1. Reward desired behaviors
        2. Do not reward undesired behavior
        3. Shaping
          1. Reinforce behaviors near desired behavior
          2. Child steps closer and closer to goal
          3. Master simple skills
            1. Systematically build on these to develop more complex skills
      3. Lovaas Program (Discrete Trial Training)
        1. Behavioral techniques
        2. Intensive and expensive program for 2 years or more
        3. Short-term and long-term efficacy is unclear
    5. Developmental intervention
      1. Applies child development theory to Autism
      2. No evidence to support to date
    6. Structured Teaching (TEACCH Autism Program)
      1. Combines both behavioral and developmental methods
      2. Highly organized, structured environments present clear concrete visual information
      3. Evidence suggests significant improvement on motor and non-verbal skills
  3. Mainstream child in classroom
  4. Treat comorbid conditions
    1. Attention Deficit Disorder
    2. Manic Depression
    3. Anxiety Disorder

XVIII. Management: Medications

  1. Precautions
    1. Strongly consider specialty referral when medication therapy is considered
    2. Reserve medications for moderate to severe behaviors
      1. Medication adverse effects are common (especially Atypical Antipsychotics)
      2. Adverse effects include Extrapyramidal Side Effects, Tremor, Sedation, weight gain
      3. Use the lowest effective dose
    3. Exclude underlying medical causes (e.g. pain) resulting in maladaptive behaviors
      1. Headaches
      2. Sinusitis
      3. Gastrointestinal conditions
    4. Efficacy of medications in Autism may be less effective than when used in patients without Autism
      1. SSRIs may have only modest effect on anxiety and may offer little benefit in repetitive behaviors
      2. Methylphenidate may have only marginal effect on ADHD in Autism
    5. References
      1. (2012) Presc Lett 19(5): 30
  2. Aggressive behaviors (aggression, outbursts, self-injury)
    1. Fluvoxamine (Luvox)
      1. Has been studied in adults with Autism
      2. McDougle (1996) Arch Gen Psychiatry 53(11): 1001-8 [PubMed]
    2. Aripiprazole (Abilify)
      1. Approved for children 6 to 17 years old
      2. Marcus (2009) J Am Acad Child Adolesc Pscyhiatry 48(11): 1110-9 [PubMed]
    3. Risperidone (Risperdal) effective for short-term aggressiveness
      1. Approved for children 5 to 16 years old
      2. McCracken (2002) N Engl J Med 347:314-21 [PubMed]
  3. Anxiety Disorder
    1. Fluoxetine (Prozac)
  4. Obsessive-compulsive symptoms (rigidity, repetition)
    1. Risperidone (Risperdal)
    2. Fluoxetine (Prozac)
    3. Fluvoxamine (Luvox)
  5. Hyperactivity, impulsivity or inattention
    1. Alpha-2 agonists such as Clonidine (Catapres) or gunafacine
    2. Atomoxetine (Strattera)
    3. Stimulants such as Methylphenidate (Ritalin)
      1. Less effective than in children without ASD
  6. Sleep disorders
    1. Trazodone
    2. Melatonin
      1. Start 0.5 to 1 mg taken 30-60 minutes before bedtime
      2. Titrate to a maximum dose of 10 mg as needed
  7. Complimentary and Alternative Medicine (CAM)
    1. Melatonin (for sleep disorders as above)
    2. Massage therapy (parents may perform)
      1. May improve sleep and language and decrease anxiety, and repetitive behaviors
    3. Other measures are not recommended due to lack of efficacy and risk of toxicity and adverse effects
      1. Vitamin B6 supplementation
      2. Magnesium Supplementation

XIX. Prognosis: Predictors of best outcomes

  1. Lower Autism spectrum disorder severity
  2. IQ >70
  3. Early referral
  4. Intensive intervention
  5. Behavioral modification more than medication therapy
  6. Better person-environment fit
    1. Improved with daytime recreational activities, community inclusion

XX. Resources

  1. Autism Society of America
    1. http://www.autism-society.org
    2. Phone: 800-328-8476
  2. Association for Science in Autism Treatment
    1. http://www.asatonline.org
  3. Autism Speaks
    1. http://www.autismspeaks.org
  4. CDC Autism Resources
    1. http://www.cdc.gov/ncbddd/autism
  5. American Academy of Pediatrics Autism Resources
    1. http://www2.aap.org/healthtopics/autism.cfm

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Ontology: Autistic Disorder (C0004352)

Definition (MEDLINEPLUS)

Autism is a disorder that is usually diagnosed in early childhood. The main signs and symptoms of autism involve communication, social interactions and repetitive behaviors.

Children with autism might have problems talking with you, or they might not look you in the eye when you talk to them. They may spend a lot of time putting things in order before they can pay attention, or they may say the same sentence again and again to calm themselves down. They often seem to be in their "own world."

Because people with autism can have very different features or symptoms, health care providers think of autism as a "spectrum" disorder. Asperger syndrome is a milder version of the disorder.

The cause of autism is not known. Autism lasts throughout a person's lifetime. There is no cure, but treatment can help. Treatments include behavior and communication therapies and medicines to control symptoms. Starting treatment as early as possible is important.

NIH: National Institute of Child Health and Human Development

Definition (NCI) A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years.
Definition (MSH) A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)
Definition (CSP) type of autism characterized by very early detection (< 30 months), social coldness, grossly impaired communication, and bizarre motor responses.
Definition (CSP) disorder beginning in childhood marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest; manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual.
Concepts Mental or Behavioral Dysfunction (T048)
MSH D001321
ICD9 299.0
ICD10 F84.0
SnomedCT 408856003, 43614003, 154878007, 271450003, 38763009, 191691000, 191688000, 192581001, 408857007, 34883005
DSM4 299.00
LNC MTHU020585, LA10578-5
English Autism, Autism, Early Infantile, Autism, Infantile, Autisms, Infantile Autism, Early, Kanner Syndrome, Kanner's Syndrome, Kanners Syndrome, Autism infantile, Syndrome, Kanner's, AUTISM INFANTILE, Autistic Disorder, Infantile Autism, early infantile autism, Infantile autism NOS, Disorder, Autistic, Disorders, Autistic, AUTISM, AUTISTIC DISORDER, infantile autism (diagnosis), infantile autism, autistic disorder, autistic disorder (infantile autism, full syndrome present), autistic disorder (diagnosis), autistic disorder infantile, full syndrome present, autistic disorder of childhood onset, autistic disorder of childhood onset (diagnosis), childhood autistic disorder, Early infantile autism, Autistic Disorder [Disease/Finding], Autism;child, autism child, autism childhood, autistics, autism, autism infantile, autistic, autistic disorders, childhood autism, Autism (209850), Autism disorder, Autism, childhood onset, Autistic spectrum disorder (ASD), Infantile autism NOS (disorder), Childhood autism (disorder), Autism in children, -- Autism, Childhood autism, Autistic disorder of childhood onset, Autistic disorder of childhood onset (disorder), autistic; disorder, Kanner, disorder; autistic, Autistic disorder, NOS, Childhood autism [Ambiguous], Autistic disorder, Infantile autism, Kanner's syndrome, Autistic disorder (disorder), Infantile autism (disorder), Early Infantile Autism, child autism
French AUTISME INFANTILE, Autisme, Autisme infantile, Trouble autistique, Autisme de Kanner, Autisme infantile précoce, Syndrome de Kanner, Autisme de la petite enfance
Portuguese AUTISMO INFANTIL, Perturbação autística, Autismo na infância, Autismo precoce da 1ª infância, Autismo da 1ª infância, Autismo, Autismo Infantil, Síndrome de Kanner, Transtorno Autístico
Spanish AUTISMO INFANTIL, autismo, síndrome de Kanner, Trastorno autístico, Autismo en la infancia, Autismo infantil, Autismo infantil precoz, trastorno de autismo, autismo infantil, SAI (trastorno), autismo infantil, SAI, autismo de la niñez, trastorno autista de inicio en la niñez (trastorno), trastorno autista de inicio en la niñez, Autismo, autismo infantil, trastorno autista (trastorno), trastorno autista, autismo infantil (trastorno), Autismo Infantil, Síndrome de Kanner, Trastorno Autístico
Dutch autisme infantiel, autisme kinderleeftijd, vroeg infantiel autisme, syndroom van Kanner, infantiel autisme, autistische afwijking, autistisch; stoornis, stoornis; autistisch, Vroegkinderlijk autisme, autisme, Autisme, infantiel, Autistische stoornis, Syndroom van Kanner
German fruehkindlicher Autismus, Kindheitsautismus, autistische Stoerung, Autismus infantil, infantiler Autismus, AUTISMUS KINDLICH, Fruehkindlicher Autismus, Autistische Störung, Autistische Stoerung, Autismus, fruehkindlicher, Autismus, Kanner-Syndrom, Autismus, kindlicher, Autismus, frühkindlicher
Italian Autismo infantile precoce, Sindrome di Kanner, Autismo infantile, Autismo, Autismo nella prima infanzia, Disturbo autistico
Japanese 小児自閉症, 自閉症性障害, 早期乳児自閉症, ジヘイショウ, ショウニジヘイショウ, ジヘイショウセイショウガイ, カナーショウコウグン, ソウキニュウジジヘイショウ, ニュウジジヘイショウ, Kanner症候群, 自閉症, カナー症候群, 乳児自閉症, 内閉, 内閉性, 内閉症, 幼児自閉症, 精神内自生活状態, 自閉, 自閉性, カンナー症候群, 乳児自閉, 乳幼児自閉症, 小児自閉症症状群, 幼児自閉, 自閉症-乳児, 自閉症-乳幼児, 自閉症-幼児
Swedish Autism
Czech autismus dětský, autismus, autistická porucha, Časný infantilní autismus, Kannerův syndrom, Infantilní autismus, Autistická porucha, Autismus, Dětský autismus
Finnish Autistinen häiriö
Russian AUTIZM, AUTIZM DETSKII, АУТИСТИЧЕСКОГО СПЕКТРА РАССТРОЙСТВА, КАННЕРА СИНДРОМ, АУТИСТИЧЕСКИЕ РАССТРОЙСТВА, KANNERA SINDROM, AUTISTICHESKOGO SPEKTRA RASSTROISTVA, AUTISTICHESKIE RASSTROISTVA, АУТИЗМ, АУТИЗМ ДЕТСКИЙ
Korean 소아기 자폐증
Croatian AUTISTIČNI POREMEĆAJ
Polish Autyzm, Zaburzenie autystyczne, Autyzm dziecięcy, Zespół Kannera, Autyzm wczesnodziecięcy
Hungarian Autismus, Gyermekkori autizmus, Autisztikus betegség, Gyermekkori autismus, Korai csecsemőkori autismus, Kanner-syndroma, Csecsemőkori autismus
Norwegian Autistisk forstyrrelse, Autisme, Infantil autisme, Kanners syndrom, Barneautisme

Ontology: Cisplatin (C0008838)

Definition (MSHCZE) Cytostatikum s podobným použitím jako karboplatina. Má výrazný emetogenní účinek, snižuje funkci ledvin (hydratace), může tlumit krvetvorbu. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) An alkylating-like inorganic platinum agent (cis-diamminedichloroplatinum) with antineoplastic activity. Cisplatin forms highly reactive, charged, platinum complexes which bind to nucleophilic groups such as GC-rich sites in DNA inducing intrastrand and interstrand DNA cross-links, as well as DNA-protein cross-links. These cross-links result in apoptosis and cell growth inhibition.
Definition (NCI_NCI-GLOSS) A drug used to treat many types of cancer. Cisplatin contains the metal platinum. It kills cancer cells by damaging their DNA and stopping them from dividing. Cisplatin is a type of alkylating agent.
Definition (CSP) inorganic, water soluble platinum complex; radiation sensitizing agent.
Definition (MSH) An inorganic and water-soluble platinum complex. After undergoing hydrolysis, it reacts with DNA to produce both intra and interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity of cisplatin correlates with cellular arrest in the G2 phase of the cell cycle.
Definition (PDQ) An inorganic platinum agent (cis-diamminedichloroplatinum) with antineoplastic activity. Cisplatin forms highly reactive, charged, platinum complexes which bind to nucleophilic groups such as GC-rich sites in DNA, inducing intrastrand and interstrand DNA cross-links, as well as DNA-protein cross-links. These cross-links result in apoptosis and cell growth inhibition. Check for "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=39515&idtype=1" active clinical trials or "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=39515&idtype=1&closed=1" closed clinical trials using this agent. ("http://nciterms.nci.nih.gov:80/NCIBrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C376" NCI Thesaurus)
Concepts Pharmacologic Substance (T121) , Inorganic Chemical (T197)
MSH D002945
SnomedCT 387318005, 303282001, 57066004
LNC LP16079-3, MTHU016242
English cis Diamminedichloroplatinum, cis Platinum, cis-Diamminedichloroplatinum, cis-Diamminedichloroplatinum(II), cis-Dichlorodiammineplatinum(II), cis-Platinum, Cisplatin, Diamminodichloride, Platinum, Dichlorodiammineplatinum, Platinum Diamminodichloride, cis platinum compound, Platinum, diamminedichloro-, (SP-4-2)-, (SP-4-2)-Diamminedichloroplatinum, Platinum, Diaminedichloro-, cis- (8CI), cis-diammine-dichloroplatinum, cisplatinum, Cis-diamminedichloroplatinum, Cis-dichloroammine Platinum (II), Cis-platinous Diamine Dichloride, Cismaplat, Cis-diamminedichloro Platinum (II), Cisplatina, Platinoxan, Cysplatyna, Cis-platinum II Diamine Dichloride, Peyrone's Chloride, Peyrone's Salt, DIAMMINEDICHLOROPLATINUM CIS 02, DICHLORODIAMMINEPLATINUM CIS 02, Diaminedichloroplatinum, cisplatin, cisplatin (medication), Cisplatin [Chemical/Ingredient], CISPLATIN, cis platinum, C.I. 77795, Platinum Metallicum, CISplatin, cis diamminedichloroplatinum, cis dichlorodiammineplatinum, platinum diamminodichloride, Diaminedichloroplatinum (substance), CDDP - Cisplatin, DDP, cis-DDP, cis-Diaminedichloroplatinum, cis-Platinum II, cis-Platinum compound, Cisplatin product, Cisplatin (product), Cisplatin (substance), CPDD, CACP, PDD, cis-platinum, cis-platinum II, cis-Platinum compound, NOS, CDDP, Cis-diammine-dichloroplatinum, Cis-diamminedichloridoplatinum, Cis-platinum II, Cis-platinum, Cisplatinum
French cis-Diamminedichloroplatine(II), cis-Platine, Cisplatine
Swedish Cisplatin
Czech cisplatina
Spanish cis-DDP, diclorodiaminoplatino, cis-diclorodiaminoplatino, diaminodicloroplatino, diaminodicloroplatino (sustancia), cis-diaminedicloroplatino, cisplatino (producto), cisplatino (sustancia), cisplatino II, cisplatino, compuesto de cisplatino, Cisplatino, Diaminocloruro de Platino, cis-Diaminodicloroplatino (II), cis-Diclorodiaminoplatino (II)
Finnish Sisplatiini
Russian PLATINY DIAMINDIKHLORID, TSISPLATIN, TSIS-DIAMINDIKHLORPLATINA (II), ПЛАТИНЫ ДИАМИНДИХЛОРИД, ЦИС-ДИАМИНДИХЛОРПЛАТИНА (II), ЦИСПЛАТИН
Japanese ジクロロジアミン白金, シス-ジクロロジアミン白金(2), プラチナムジアミノジクロリド, ジクロロジアンミン白金, シスプラチン, シス-ジアミンジクロロ白金(2)
Italian Cis-diaminodicloro platino(II), Diammino-dicloro-platino, Cis dicloro diamino platino, Cis dicloro diamino platino(II), cis-Platino, Diammino dicloro platino, Cisplatino
German DICHLORODIAMMINEPLATIN CIS 02, DIAMMINDICHLOROPLATIN CIS 02, Cisplatin, Platindiammindichlorid, cis-Diammindichloroplatin (II), cis-Dichlorodiamminplatin (II)
Croatian CISPLATIN
Polish Cisplatyna, Dichlorodiaminoplatyna
Norwegian Cisplatin
Portuguese Cisplatino, Diaminodicloroplatina, cis-Diaminodicloroplatina (II), cis-Diclorodiaminoplatina (II)

Ontology: Rett Syndrome (C0035372)

Definition (MSHCZE) Syndrom charakterizovaný pomalým a abnormálním vývojem zdánlivě zdravě narozených děvčátek; v 6. až 18. měsíci života se zastavuje vývoj, obvod lebky roste pomalu, mizí svalový tonus, začínají neúčelné pohyby a záchvaty, může se vyvinout skolióza. Je atrofie mozku, hyperamonemie, progredující demence. Dědičnost je zřejmě dominantní s vazbou na X chromozom. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (MEDLINEPLUS)

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include

  • Loss of speech
  • Loss of hand movements such as grasping
  • Compulsive movements such as hand wringing
  • Balance problems
  • Breathing problems
  • Behavior problems
  • Learning problems or intellectual disability

Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.

NIH: National Institute of Child Health and Human Development

Definition (NCI) A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.
Definition (CSP) progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia.
Definition (MSH) An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Concepts Disease or Syndrome (T047)
MSH D015518
ICD10 F84.2
SnomedCT 68618008, 192583003
DSM4 299.80
English Rett's Syndrome, Retts Syndrome, Syndrome, Rett, Syndrome, Rett's, Rett's Disorder, Rett's syndrome, RETT SYNDROME, RTT, RTS, AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE, Rett Syndrome, RETTS DIS, RETT DIS, cerebroatrophic hyperammonemia, Rett's syndrome (diagnosis), Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome, Cerebroatrophic Hyperammonemia, Hyperammonemia, Cerebroatrophic, Cerebroatrophic Hyperammonemias, Hyperammonemias, Cerebroatrophic, Rett Disorder, Rett disorder, Rett Syndrome [Disease/Finding], rett disorder, rett's syndrome, rett syndrome, rett's disorder, disorder retts, retts syndrome, syndrome rett, Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome, Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use, Retts syndrome, Rett syndrome (disorder), Rett syndrome, Cerebroatrophic hyperammonaemia, Cerebroatrophic hyperammonemia, Rett's disorder, RTS - Rett syndrome, Rett's disorder (disorder), Rett
Japanese レット障害, レットショウガイ, Rett症候群, レット症候群
Swedish Retts syndrom
Czech Rettův syndrom, Rettova choroba
Finnish Rettin oireyhtymä
Russian RETTA SINDROM, РЕТТА СИНДРОМ
Italian Disturbo di Rett, Iperammoniemia cerebroartrofica, RTT, SR, Sindrome da autismo, demenza, atassia e perdita dell'uso finalistico della mano, Sindrome di Rett
Korean 레트 증후군
Croatian RETTOV SINDROM
Portuguese Síndrome de Autismo-Demência-Ataxia-Perda do Uso Proposital da Mão, Síndrome de Autismo-Demência-Ataxia-Perda do Uso Intencional da Mão, Hiperamonemia Cerebroatrófica, Síndrome de Rett
Polish Zespół Retta
Hungarian Rett-betegség
Norwegian Retts syndrom
Spanish hiperamonemia cerebroatrófica, síndrome de Rett, trastorno de Rett (trastorno), trastorno de Rett, Trastorno de Rett, Autismo, Demencia, Ataxia y Pérdida Intencionada del Uso de la Mano, Hiperamonemia Cerebroatrófica, Síndrome de Rett
Dutch ziekte van Rett, Autisme-dementie-ataxie-verminderde handfunctie, Hyperammonemie, cerebroatrofische i, Syndroom van Rett
German Rett Syndrom, Rett-Syndrom, Hirnatrophische Hyperammonämie, Syndrom mit Autismus, Demenz, Alexie und Verlust von zweckmäßigen Handbewegungen
French Syndrome de Rett

Ontology: Childhood disintegrative disorder (C0236791)

Definition (NCI) A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism.
Concepts Mental or Behavioral Dysfunction (T048)
ICD9 299.1
ICD10 F84.3
SnomedCT 192584009, 191694008, 71961003
DSM4 299.10
English Childhood disintegrative disor, Dementia infantalis, Disintegrative psychosis NOS, childhood disintegrative disorder (diagnosis), childhood disintegrative disorder, Psychosis disintegrative, heller's syndrome, disintegrative psychosis, Childhood Disintegrative Disorder, [X]Heller's syndrome, Disintegrative psychosis NOS (disorder), [X]Disintegrative psychosis, [X] Dementia infantalis, [X]Symbiotic psychosis, [X]Dementia infantalis, [X] Heller's syndrome, CDD - Childhood disintegrative disorder, Disintegrative psychosis, Childhood disintegrative disorder, Heller's syndrome, Dementia infantilis, Childhood disintegrative disorder (disorder), disintegrative psychosis; childhood, disintegrative; psychosis, psychosis; disintegrative
Italian Disturbo disgregativo infantile, Psicosi disintegrativa, Demenza infantile, Sindrome di Heller
Dutch dementie in de kleuterleeftijd, syndroom van Heller, psychose desintegratief, desintegratieve psychose, desintegratie; psychose, desintegratiestoornis; kinderleeftijd, psychose; desintegratie, kindertijd desintegratieve stoornis
French Démence infantile, Syndrome de Heller-Zappert, Psychose désintégrative, Syndrome de Heller, Troubles désintégratifs de l'enfance
German desintegrative Psychose, Psychose, desintegrativ, Heller-Syndrom, Dementia infantalis, Desintegration der Persoenlichkeit in der Kindheit
Portuguese Síndrome de Heller, Psicose desintegradora, Demência infantil, Criança descurada
Spanish Demencia infantil, Psicosis desintegrativa, Síndrome de Heller, psicosis desintegrativa, SAI (trastorno), psicosis desintegrativa, SAI, dementia infantilis, psicosis desintegrativa, síndrome de Heller, trastorno desintegrativo infantil (trastorno), trastorno desintegrativo infantil, Trastorno desintegrativo infantil
Japanese 乳児認知症, 小児期崩壊性障害, 崩壊性精神病, ヘラー症候群, ニュウジニンチショウ, ヘラーショウコウグン, ショウニキホウカイセイショウガイ, ホウカイセイセイシンビョウ
Czech Hellerův syndrom, Psychóza dezintegrační, Dementia infantilis, Dezintegrační psychóza, Dezintegrační porucha v dětství
Hungarian Psychosis, dezintegrált, Dementia infantalis, Dezintegrált psychosis, Gyermekkori dezintegrációs zavar, Heller-syndroma

Ontology: Asperger Syndrome (C0236792)

Definition (CHV) a childhood disorder predominately affecting boys and similar to autism
Definition (CHV) a childhood disorder predominately affecting boys and similar to autism
Definition (CHV) a childhood disorder predominately affecting boys and similar to autism
Definition (CHV) a childhood disorder predominately affecting boys and similar to autism
Definition (MEDLINEPLUS)

Asperger syndrome (AS) is an autism spectrum disorder. Autism spectrum disorders are developmental disorders that affect how a person behaves, interacts with others, communicates, and learns. Asperger syndrome is milder than autism but shares some of its symptoms.

The cause of Asperger syndrome is not known. It is more common in boys than girls.

Signs and symptoms of Asperger syndrome show up by the time children are 3 years old. A major symptom is an obsessive interest in a single subject. They want to know everything about the topic and often talk about little else. They may have an excellent vocabulary but have very formal speech patterns.

Other symptoms include

  • Trouble reading social cues and recognizing other people's feelings
  • Having strange movements or mannerisms
  • Problems with motor skills
  • Avoiding eye contact
  • Having rituals
  • Being sensitive to certain lights, sounds, textures, or tastes

All of these make it difficult for them to make friends.

Treatment focuses on the three main symptoms: poor communication skills, obsessive or repetitive routines, and physical clumsiness. Treatments may also include behavior therapy and medicines.

NIH: National Institute of Child Health and Human Development

Definition (NCI) A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.
Definition (MSH) A childhood disorder predominately affecting boys and similar to autism (AUTISTIC DISORDER). It is characterized by severe, sustained, clinically significant impairment of social interaction, and restricted repetitive and stereotyped patterns of behavior. In contrast to autism, there are no clinically significant delays in language or cognitive development. (From DSM-IV)
Definition (PSY) Syndrome or disorder usually first diagnosed in childhood, characterized by severe and sustained impairment in social interactions and restricted, repetitive patterns of behaviors, interests, and activities.
Definition (CSP) neuropsychiatric disorder whose major manifestation is an inability to interact socially; other features include poor verbal and motor skills, singlemindedness, and social withdrawal.
Concepts Disease or Syndrome (T047)
MSH D020817
ICD10 F84.5
SnomedCT 23560001, 192586006, 154879004
DSM4 299.80
English Asperger's Disorder, ASPERGERS DIS, Aspergers Disorder, Asperger's Syndrome, Asperger disorder, Asperger Syndrome [Disease/Finding], asperger syndrome, asperger disorder, asperger's disorder, asperger's syndrome, Aspergers disorder, Asperger Disease, Asperger's Disease, Asperger Disorder, Asperger syndrome (disorder), Asperger syndrome, Asperger syndrome (diagnosis), Asperger's disorder, Asperger's disorder (disorder), Asperger's syndrome, Asperger, Asperger Syndrome, Aspergers Syndrome, Aspergers syndrome
Italian Malattia di Asperger, Disordine di Asperger, Sindrome di Asperger
Dutch syndroom van Asperger, stoornis van Asperger, Aspergersyndroom, Stoornis van Asperger, Syndroom van Asperger
Swedish Aspergers syndrom
Japanese アスペルガーショウコウグン, アスペルガー障害, アスペルガーショウガイ, Asperger症候群, アスパーガー症候群, アスペルガー症候群, アスペルゲル氏症候群
Czech Aspergerův syndrom, Aspergerova porucha
Finnish Aspergerin oireyhtymä
Russian ASPERGERA SINDROM, АСПЕРГЕРА СИНДРОМ
Korean 아스퍼거 증후군
Polish Zespół Aspergera
Hungarian Asperger-syndroma, Asperger-betegség
Norwegian Aspergers syndrom
Spanish trastorno de Asperger (trastorno), trastorno de Asperger, Trastorno de Asperger, Síndrome de Asperger
French Syndrome d'Asperger
German Asperger-Syndrom
Portuguese Síndrome de Asperger

Ontology: Pervasive Development Disorder (C0524528)

Definition (NCI) A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.
Definition (PSY) Broad term for disorders, usually first diagnosed in children prior to age 4, characterized by severe and profound impairment in social interaction, communication, and the presence of stereotyped behaviors, interests, and activities. Compare DEVELOPMENTAL DISABILITIES.
Definition (CSP) group of disorders characterized by delays in the development of socialization and communication skills; typical age of onset is before 3 years of age; symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns; AUTISM is the most characteristic and best studied PDD; other types of PDD include ASPERGER SYNDROME, Childhood Disintegrative Disorder, and RETT SYNDROME; prefer NTs where possible.
Concepts Mental or Behavioral Dysfunction (T048)
MSH D002659
ICD9 299, 299.9
ICD10 F84.9 , F84
SnomedCT 35919005, 192580000, 192588007, 229710003, 367103007
DSM4 299.80
English PERVASIVE DEVELOPMENTAL DISORDERS, Pervasive Developmental Disorder NOS, Pervasive developmental disord, Pervasive developmental disorder, unspecified, Pervasve develop dis unsp, [X]Pervasive developmental disorder, unspecified, [X]Pervasve develop dis unsp, Development Disorder, Pervasive, Development Disorders, Pervasive, Disorder, Pervasive Development, Disorders, Pervasive Development, PPD - Pervasive devel disorder, PPD - Pervasive developmental disorder, pervasive developmental disorders, pervasive developmental disorders (diagnosis), Pervasive developmental disorder (PDD), Pervasive developmental disorders, developmental disorder pervasive, pervasive development disorder, pervasive development disorders, developmental disorders pervasive, autistic spectrum disorder, development disorder pervasive, autistic disorders spectrum, pervasive developmental disorder, Pervasive Developmental Disorder, Developmental disorder, pervasive, Autistic spectrum disorder (disorder), [X]Pervasive developmental disorder, unspecified (disorder), [X]Autistic spectrum disorder, Autistic continuum, Autistic spectrum disorder, Pervasive developmental disorder, Pervasive developmental disorder (disorder), developmental disorder; pervasive, pervasive; developmental disorder, Pervasive developmental disorder, NOS, Pervasive Developmental Disorders, Pervasive Development Disorders, Pervasive developmental disorder NOS, Unspecified pervasive developmental disorder, PDD, Pervasive Development Disorder
Dutch pervasieve ontwikkelingsstoornis, pervasieve ontwikkelingsstoornis NAO, ontwikkelingsstoornis; pervasief, pervasief; ontwikkelingsstoornis, Pervasieve ontwikkelingsstoornis, niet gespecificeerd, Pervasieve ontwikkelingsstoornissen, Ontwikkelingsstoornissen, pervasieve
French Trouble envahissant du développement SAI, Trouble envahissant du développement, Troubles envahissants du développement, TED (Trouble Envahissant du Développement)
German tiefgreifende Entwicklungsstoerung NNB, tiefgreifende Entwicklungsstoerung, Pervasive Entwicklungsstörungen, Tiefgreifende Entwicklungsstoerung, nicht naeher bezeichnet, Tiefgreifende Entwicklungsstoerungen
Italian Disturbo pervasivo dello sviluppo, Disturbo pervasivo dello sviluppo NAS, Disturbi generalizzati dello sviluppo
Portuguese Perturbação global do desenvolvimento NE, Perturbação global do desenvolvimento, Transtornos Globais do Desenvolvimento
Spanish Trastorno generalizado del desarrollo NEOM, Trastorno generalizado del desarrollo, Trastornos Generalizados del Desarrollo, trastornos generalizados del desarrollo (trastorno), trastorno generalizado del desarrollo (trastorno), trastorno generalizado del desarrollo, trastornos generalizados del desarrollo, [X]trastorno generalizado del desarrollo, no especificado, [X]trastorno generalizado del desarrollo, no especificado (trastorno)
Japanese 広汎性発達障害, 広汎性発達障害NOS, コウハンセイハッタツショウガイ, コウハンセイハッタツショウガイNOS
Czech Pervazivní vývojová porucha, Pervazivní vývojová porucha NOS, pervazivní vývojové poruchy
Korean 상세불명의 전반적 발달 장애, 전반적 발달 장애
Hungarian Pervasiv fejlődési zavar, Pervasiv fejlődési zavar k.m.n.
Norwegian Utviklingsforstyrrelse, gjennomgripende, Gjennomgripende utviklingsforstyrrelse

Ontology: Autism Spectrum Disorders (C1510586)

Definition (MSH) Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)
Definition (NCI) A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.
Concepts Mental or Behavioral Dysfunction (T048)
MSH D002659
Dutch autismespectrumstoornis
Portuguese Perturbação espectral do autismo
Spanish Alteraciones de la gama del autismo
Japanese 自閉症スペクトラム障害, ジヘイショウスペクトラムショウガイ
English AUTISM SPECTRUM DISORDER, Disorders, Autism Spectrum, Spectrum Disorders, Autism, Disorder, Autism Spectrum, Spectrum Disorder, Autism, ASD, Autism Spectrum Disorders, Autism Spectrum Disorder, Autism spectrum disorders, autism spectrum disorder, autism spectrum disorder (diagnosis), Autism spectrum disorder
Czech Autistická spektrální porucha, poruchy autistického spektra
Hungarian Autismus spektrum zavar
Norwegian Autisme spektrum, Psykisk utviklingsforstyrrelse med autistiske trekk
French TSA (Trouble du Spectre Autistique), Troubles du spectre autistique
Italian Disturbo dello spettro autistico
German Stoerungen auf dem autistischen Spektrum