Pediatrics Book

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AutismAka: Pervasive Developmental Delay, PDD

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  1. Epidemiology
    1. Gender Predisposition: Males by 2 to 4:1 ratio
    2. Incidence
      1. Pervasive Developmental Disorder: 63 per 10,000
      2. Autism: 6 per 10,000
      3. Autism in sibling of autistic patient: 3-7%
  2. Causes
    1. Idiopathic (80% of cases)
    2. Associated Factors
      1. Rubella infection
      2. Cytomegalovirus infection
      3. Herpes Simplex Infection
      4. Anoxic brain injury
      5. Thalidomide
      6. Low birth weight
      7. Genetic component
      8. Tuberous sclerosis
      9. Untreated Phenylketonuria
      10. Fragile X Syndrome
      11. Down Syndrome
      12. Fetal Alcohol Syndrome
    3. Disproved factors (not associated with Autism)
      1. Mercury preserved vaccines
      2. Yeast infection
      3. Gluten allergy
      4. Casein allergy
      5. Measles Mumps Rubella Vaccine (MMR)
        1. Taylor (1999) Lancet 353:2026
        2. DeStafano (2000) J Pediatr 136:125
  3. Types of Pervasive Developmental Delay (PDD)
    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. 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
    5. Pervasive Developmental Delay, not otherwise specified
      1. Autism not consistent with other subtypes
  4. Associated Conditions
    1. Self-Injury Behavior
    2. Mental Retardation
    3. Seizure Disorder
    4. Attention Deficit Disorder
  5. Symptoms: General
    1. Language deficits or regression (see below)
    2. Social skills impaired
    3. Inflexible
      1. Temper tantrums for changed routine
      2. Unimaginative monotonous play
    4. Sensory deficit
      1. Sound intolerance
      2. Gaze aversion
      3. Child stares at shadows
    5. Clumsiness
    6. Repetitive purposeless movements
      1. Provocative: Stress
      2. Palliative: Decreases as children grow older
      3. Examples
        1. Hand flapping
        2. Rocking
        3. Pacing
  6. 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. 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
    3. Preschool and older children
      1. Child does not answer questions
      2. Child "talks to talk," but does not communicate
      3. Echolalia
      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
  7. 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
      2. Ages and Stages Questionnaire
      3. Minnesota Child Developmental Inventory (MCDI)
      4. Brigance Screen
    3. Specific Autism Screening
      1. Indications
        1. Language or social regression
        2. Age 6 months: No single words
        3. Age 12 months: No babbling, pointing or gestures
        4. Age 24 months: No 2 word spontaneous phrases
      2. Tests
        1. Checklist for Autism in Toddlers (CHAT)
          1. http://www.nas.org.uk/profess/chat.html
        2. Pervasive Developmental Disorders Screening (PDDST)
          1. Publisher: Porter Psychiatric Institute
          2. Phone: 415-476-7385
        3. Autism Screening Questionnaire
        4. Australian Scale for Asperger Syndrome
  8. Differential Diagnosis of Autism
    1. Other Pervasive Developmental Disorder (see above)
    2. Selective Mutism
    3. Stereotypic Movement Disorder
    4. Childhood onset Schizophrenia
  9. Labs (if indicated)
    1. Fragile X Testing
    2. Lead Level
    3. Urine for Phenylketonuria (if not screened as newborn)
  10. Diagnostics
    1. Deep Sleep EEG
  11. Management
    1. Early intervention with multidisciplinary team
      1. Teach communication and socialization skills
      2. Augmented communication (e.g. letter board)
      3. 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
      4. Auditory Integration Training (AIT)
        1. Listen to specially formulated music
        2. No evidence to support currently
      5. 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
    2. Mainstream child in classroom
    3. Treat comorbid conditions
      1. Attention Deficit Disorder
      2. Manic Depression
    4. Medication options
      1. Selective Serotonin Reuptake Inhibitors (SSRI)
      2. Trazodone
    5. Medication management of aggressive behaviors
      1. Risperidone effective for short-term aggressiveness
        1. McCracken (2002) N Engl J Med 347:314
  12. Resources
    1. Autism Society of America
      1. http://www.autism-society.org
      2. Phone: 800-328-8476
    2. Center for Study of Autism
      1. http://www.autism.org
  13. References
    1. Leventhal in Tasman (1997) Psychiatry, p. 650-667
    2. Rapin (2001) JAMA 285:1749
    3. Filipek (1999) J Autism Dev Disord 29:439
    4. Prater (2002) Am Fam Physician 66(9):1667

Autistic Disorder (C0004352)

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)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.
Definition (CSP)type of autism characterized by very early detection (< 30 months), social coldness, grossly impaired communication, and bizarre motor responses.
ConceptsMental or Behavioral Dysfunction (T048)
ICD9299.0, 299.0
MSHD001321
EnglishAutism, Autisms, AUTISTIC, Autistic Disorder, Autistic disorder of childhood onset, autistic disorders, Childhood autism, early infantile autism, Infantile Autism, Infantile psychosis, Kanner Syndrome, Kanner's Syndrome, Kanners Syndrome
Spanishautismo, autismo de la ninez, autismo infantil, psicosis infantil, sindrome de Kanner, trastorno autista, trastorno autista de inicio en la ninez
Parent ConceptsPsychoses with origin in childhood (C0338793), personality problem (C0679453), Autistic Disorder (C0004352), Mental disorders (C0004936), Child Mental Disorders (C0178546), Pervasive Development Disorder (C0524528), Child Development Disorders, Pervasive (C0008074), Psychotic Disorders (C0033975), Ambiguous concept (C1274012), Duplicate concept (C1274013)
SourcesAOD, COSTAR, CSP, CST, DXP, ICD9CM, LCH, MEDLINEPLUS, MSH, MTH, MTHICD9, NDFRT, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)


Cisplatin (C0008838)

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 (CSP)inorganic, water soluble platinum complex; radiation sensitizing agent.
Definition (NCI)An anticancer drug that belongs to the family of drugs called platinum compounds.
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)
Definition (NCI)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. (NCI04)
ConceptsPharmacologic Substance (T121) , Inorganic Chemical (T197)
MSHD002945
EnglishCACP, CDDP, CDDP - Cisplatin, cis diamminedichloroplatinum, cis dichlorodiammineplatinum, cis Platinum, cis platinum compound, cis-DDP, cis-Diaminedichloroplatinum, Cis-diammine-dichloroplatinum, Cis-diamminedichloridoplatinum, cis-Diamminedichloroplatinum, Cis-platinous Diamine Dichloride, cis-Platinum, cis-Platinum compound, cis-Platinum II, Cis-platinum II Diamine Dichloride, Cismaplat, Cisplatin, CISPLATIN PREPARATION, Cisplatin product, Cisplatina, Cisplatinum, CPDD, Cysplatyna, DDP, Diaminedichloroplatinum, DIAMMINEDICHLOROPLATINUM CIS 02, Dichlorodiammineplatinum, DICHLORODIAMMINEPLATINUM CIS 02, PDD, Peyrone's Chloride, Peyrone's Salt, Platinoxan, Platinum Diamminodichloride
Spanishcis-diaminedicloroplatino, cisplatino, cisplatino II, compuesto de cisplatino, diaminodicloroplatino
Parent ConceptsAntineoplastic Agents (C0003392), Cisplatin (C0008838), Nitrogen Compounds, Inorganic (C0028159), Platinum Compounds (C0206135), Chlorine Compounds (C0206759), Radiation-Sensitizing Agents (C0034541), Other antineoplastic drugs (C0356919), Antineoplastic metal complex agent (C1443631), Antineoplastic metal complex preparation (C1443632), Drug allergen by structure (C1532645), Duplicate concept (C1274013), ANTINEOPLASTIC,OTHER (C1579411)
SourcesCSP, LCH, LNC, MSH, MTH, MTHSPL, NCI, NDFRT, PDQ, RXNORM, SCTSPA, SNOMEDCT, USPMG, VANDF
Derived from the NIH UMLS (Unified Medical Language System)



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