2009 papers important for understanding autism

Following are some papers published in 2009 that I feel should be considered by
members of the IACC as relevant to the problems of children with autism:

The following two papers by Russo et al. are most important because they (a) address
the core handicap of children with autism, developmental language disorder, and (b)
underlying impairments in the brain are investigated:

    1. Russo N, Nicol T, Trommer B, Zecker S, Kraus N. Brainstem transcription of
       speech is disrupted in children with autism spectrum disorders.
             Dev Sci. 2009 Jul;12(4):557-67.

    Demonstration that speech sounds are distorted at the brainstem level in
    children with ASD.

    2. Russo N, Zecker S, Trommer B, Chen J, Kraus N. Effects of background noise
       on cortical encoding of speech in autism spectrum disorders.
             J Autism Dev Disord. 2009 Aug;39(8):1185-96.

    Demonstration that cortical processing of speech sounds is defective in
    children with ASD.
Following is a paper on repetitive stereotyped movements in autism and their correlation
with neurological impairment rather than self-stimulation.  Impairment of fronto-striatal
basal ganglia circuitry and cerebellum is suggested as part of early life disruption of
subcortical neuronal networks.

    3. Goldman S, Wang C, Salgado MW, Greene PE, Kim M, Rapin I. Motor
       stereotypies in children with autism and other developmental disorders.
             Dev Med Child Neurol. 2009 Jan;51(1):30-8.

Following is a report based on birth certificate data for statistics on perinatal risk in
children with autism compared with a large number of control subjects.  Autism was
associated with breech presentation and primary (as opposed to repeat) cesarean
section.  Because breech presentation is a rationale for cesarean delivery, it was not
cited as a primary risk factor.  Breech presentation was cited as a shared rather than
causal risk factor for autism.  Other findings included over-representation of first-born
and advanced maternal age.

    4. Bilder D, Pinborough-Zimmerman J, Miller J, McMahon W. Prenatal, perinatal,
       and neonatal factors associated with autism spectrum disorders.
             Pediatrics 2009;123;1293-1300.

    Comment: This paper like other epidemiology studies does not even
    mention how the brain might be affected by breech or cesarean birth.  The
    concern is that the infant will suffer oxygen deprivation.  An infant born by
    cesarean section is less ready to give up placental respiration and begin
    the transition to lung inflation.  This along with other epidemiology reports
    adds to the evidence that perinatal complications are associated with autism.

Following is a report of an exploratory retrospective study of 1000 children with sensory
processing disorder (SPD) and 467 with autism spectrum disorder (ASD) attending a
clinic for occupational therapy.  Assisted deliveries (C-section, induced labor, forceps
and/or suction) were reported in 43.5% of children with ASD, and jaundice was reported
in 30.2%.  Delays in motor milestones (rolling over, sitting, crawling, standing, and
walking) were commonly reported in addition to developmental language disorder.

    5. May-Benson TA, Koomar JA, Teasdale A. Incidence of pre-, peri-, and post-
       natal birth and developmental problems of children with sensory processing
       disorder and children with autism spectrum disorder.
             Front Integr Neurosci. 2009;3:31 pp1-12.

    This is one of very few recent papers to cite the work of William Windle:

    “Windle (1969) found that monkeys deprived of oxygen at birth
    demonstrated poor sensory processing and had damage to auditory
    and tactile processing areas of the brain.” [p 31]

    Comment:  Finding possible causal factors for autism is an urgent problem
    at the present time.  Retrospective chart reviews are often unfairly
    discredited, but how do insurance companies collect data?  No specific
    unifying features were found in this study, but the authors suggested that,
    “a number of subtle pathologic factors may occur in combination, and may
    be influenced by genetics” [p2].  Birth injury needs to be a focus of research
    as a predisposition for autism.  Obvious problems like prenatal use of drugs
    and clamping off umbilical blood flow before the first breath should be
    stopped now.

    See also the recent (2010) article in press:
    Zhang X, Lv CC, Tian J, Miao RJ, Xi W, Hertz-Picciotto I, Qi L. Prenatal and
    Perinatal Risk Factors for Autism in China.
                   J Autism Dev Disord. 2010 Apr 1. [Epub ahead of print]

Following is a report of cerebellar neuron counts in brains from six subjects with autism
and four controls.  Differences approached but did not meet t-test requirements for
statistical significance.  Discussion of long-known decreased numbers of Purkinje cells
points to loss late in gestation or in the postnatal period.  Discussion of one prominent
outlier autism case underscores diversity of those afflicted with autism.

    6. Whitney ER, Kemper TL, Rosene DL, Bauman ML, Blatt GJ. Density of
       cerebellar basket and stellate cells in autism: evidence for a late
       developmental loss of Purkinje cells.
             J Neurosci Res. 2009 Aug 1;87(10):2245-54.

    Comment:  Autism is associated with many diverse medical conditions that
    must all affect the “final common pathway” in the brain.  The cerebellum is
    part of the final common pathway, perhaps responsible for motor
    disturbances in some individuals with autism, but probably not responsible
    for the core handicap of developmental language disorder.  This paper
    adds useful evidence from investigation of brain tissue, which must continue
    to be done.

Posted April 19, 2010, in progress
More articles relevant to autism published in 2009:

    7.  Bhutani VK, Johnson L. Kernicterus in the 21st century: frequently asked
              questions. J Perinatol. 2009 Feb;29 Suppl 1:S20-4.

    The same subcortical sites affected in kernicterus should be considered as
    possible sites of impairment in children with autism.

    8.  Brun CC, Nicolson R, Leporé N, Chou YY, Vidal CN, Devito TJ, Drost DJ,
        Williamson PC, Rajakumar N, Toga AW, Thompson PM. Mapping brain
        abnormalities in boys with autism. Hum Brain Mapp.
              Hum Brain Mapp. 2009 Dec;30(12):3887-900.

    9.  Buhimschi CS, Weiner CP. Medications in pregnancy and lactation: part 1
              Teratology. Obstet Gynecol. 2009 Jan;113(1):166-88. Erratum in: Obstet
        Gynecol. 2009 Jun;113(6):1377  .

    10. Buhimschi CS, Weiner CP. Medications in pregnancy and lactation: Part 2.
         Drugs with minimal or unknown human teratogenic effect.
               Obstet Gynecol. 2009 Feb;113(2 Pt 1):417-32.

    Why are medications being used during pregnancy?

    11. Fuentes CT, Mostofsky SH, Bastian AJ. Children with autism show specific
               handwriting impairments.Neurology. 2009 Nov 10;73(19):1532-7.  

    See also:
    Beversdorf DQ, Anderson JM, Manning SE, Anderson SL, Nordgren
    RE, Felopulos GJ, Bauman ML. Brief report: macrographia in high-
    functioning adults with autism spectrum disorder.
                             J Autism Dev Disord. 2001 Feb;31(1):97-101.

    Those of us who work in the patient milieu are well aware of poor manual
    dexterity in adults who were developmentally delayed in childhood.

    12. Hardan AY, Pabalan M, Gupta N, Bansal R, Melhem NM, Fedorov S,
         Keshavan MS, Minshew NJ. Corpus callosum volume in children with autism.
               Psychiatry Res. 2009 Oct 30;174(1):57-61.

    13. Hertz-Picciotto I, Delwiche L. The rise in autism and the role of age at
               diagnosis. Epidemiology. 2009 Jan;20(1):84-90.

    14. Ito T. Children's toxicology from bench to bed--Liver injury (1): Drug-induced
         metabolic disturbance--toxicity of 5-FU for pyrimidine metabolic disorders and
               pivalic acid for carnitine metabolism. J Toxicol Sci. 2009;34 Suppl 2:SP217-22.

    15. Jou RJ, Minshew NJ, Melhem NM, Keshavan MS, Hardan AY. Brainstem
         volumetric alterations in children with autism.
               Psychol Med. 2009 Aug;39(8):1347-54.

    16. Kuhara T, Ohse M, Inoue Y, Shinka T. Five cases of beta-ureidopropionase
         deficiency detected by GC/MS analysis of urine metabolome.
               J Mass Spectrom. 2009 Feb;44(2):214-21.

    17. Li H, Steyger PS. Synergistic ototoxicity due to noise exposure and
               aminoglycoside antibiotics. Noise Health. 2009 Jan-Mar;11(42):26-32.

    18. Mercer J, Bewley S. Could early cord clamping harm neonatal stabilization?
         Lancet. 2009 Aug 1;374(9687):377-8.

    A response to the article by Odd et al. below

    19. Moncrieff J. A critique of the dopamine hypothesis of schizophrenia and
               psychosis. Harv Rev Psychiatry. 2009;17(3):214-25.

    20. Mosconi MW, Cody-Hazlett H, Poe MD, Gerig G, Gimpel-Smith R, Piven J.
         Longitudinal study of amygdala volume and joint attention in 2- to 4-year-old
               children with autism. Arch Gen Psychiatry. 2009 May;66(5):509-16.

    21.Odd DE, Lewis G, Whitelaw A, Gunnell D. Resuscitation at birth and cognition
              at 8 years of age: a cohort study. Lancet. 2009 May 9;373(9675):1615-22.

    22. Reiman M, Parkkola R, Johansson R, Jääskeläinen SK, Kujari H, Lehtonen L,
         Haataja L, Lapinleimu H; PIPARI Study Group. Diffusion tensor imaging of the
         inferior colliculus and brainstem auditory-evoked potentials in preterm infants.
               Pediatr Radiol. 2009 Aug;39(8):804-9.

    23. Sullivan EV, Pfefferbaum A. Neuroimaging of the Wernicke-Korsakoff
               syndrome. Alcohol Alcohol. 2009 Mar-Apr;44(2):155-65.

    24. Toal F, Bloemen OJ, Deeley Q, Tunstall N, Daly EM, Page L, Brammer MJ,
         Murphy KC, Murphy DG. Psychosis and autism: magnetic resonance imaging
               study of brain anatomy. Br J Psychiatry. 2009 May;194(5):418-25.