Skip to main content
SpringerLink
Log in

Gender Differences in Neurodevelopmental Disorders: Autism and Fragile X Syndrome

  • Chapter
  • First Online:
Biological Basis of Sex Differences in Psychopharmacology

Part of the book series: Current Topics in Behavioral Neurosciences ((CTBN,volume 8))

Abstract

Gender is an important factor to consider in understanding the clinical presentation, management, and developmental trajectory of children with neuropsychiatric disorders. While much is known about the clinical and neurobehavioural profiles of boys with neuropsychiatric disorders, surprisingly little is known about girls. The aim of this chapter was to review our understanding of gender by considering the most prevalent childhood onset neuropsychiatric disorders, autism and Fragile X syndrome. This chapter highlights findings which suggest that girls with autism and Fragile X syndrome show some unique differences in cognitive and clinical profiles when compared to boys with these conditions; this may indicate the need for innovative assessment and management approaches which take gender into consideration. Our understanding of how differences emerge in boys and girls with neuropsychiatric disorders is unclear, future research needs to focus on the role of biological maturation rates, sex hormones, and psychosocial factors in order to progress this field.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Abbeduto L, Brady N, Kover ST (2007) Language development and fragile X syndrome: profiles, syndrome-specificity, and within-syndrome differences. Ment Retard Dev Disabil Res Rev 13(1):36–46

    Article  PubMed  Google Scholar 

  • American Psychiatric Association (2000) Diagnostic and Statistical Manual of Mental Disorders IV-TR, 4th edn. American Psychiatric Association Press, Washington, DC

    Google Scholar 

  • Asperger H (1944) Die autistichen Psychopathen im Kindersalter. Arch Psychiatr Nervenkr 117:76–136

    Article  Google Scholar 

  • Auyeung B et al (2009) Fetal testosterone and autistic traits. Br J Psychiatry 100(1):1–22

    Google Scholar 

  • Barbeau E, Mendrek A, Mottron L (2009) Are autistic traits autistic? Br J Psychiatry 100(1):23–28

    Google Scholar 

  • Baron-Cohen S (2002) The extreme male brain theory of autism. Trends Cogn Sci 6(6):248–254

    Article  PubMed  Google Scholar 

  • Baron-Cohen S, Knickmeyer RC, Belmonte M (2005) Sex differences in the brain: implications for explaining autism. Science 310(5749):819–823

    Article  PubMed  CAS  Google Scholar 

  • Belser RC, Sudhalter V (1995) Arousal difficulties in males with fragile X syndrome: a preliminary report. Dev Brain Dysfunct 8:270–279

    Google Scholar 

  • Belser RC, Sudhalter V (2001) Conversational characteristics of children with fragile X syndrome: repetitive speech. Am J Ment Retard 106(1):28–38

    Article  PubMed  CAS  Google Scholar 

  • Bennetto L, Pennington BF (2002) Neuropsychology. In: Hagerman RJ, Hagerman PJ (eds) Fragile X syndrome: diagnosis, treatment and research, 3rd edn. The John Hopkins University Press, Baltimore

    Google Scholar 

  • Bloss C, Courchesne E (2007) MRI neuroanatomy in young girls with autism: a preliminary study. J Am Acad Child Adolesc Psychiatry 46(4):515–523

    Article  PubMed  Google Scholar 

  • Canli T, Amin Z (2002) Neuroimaging of emotion and personality: scientific evidence and ethical considerations. Brain cogn 50(3):414–431

    Article  PubMed  Google Scholar 

  • Carter A et al (2007) Sex differences in toddlers with autism spectrum disorders. J Autism Dev Disord 37(1):86–97

    Article  PubMed  Google Scholar 

  • Clifford S et al (2007) Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord 37(4):738–747

    Article  PubMed  Google Scholar 

  • Cornish KM, Wilding J (2006) Does cognitive performance increase or decrease across development in Fragile X syndrome: impact of verbal mental age and gender. In: Mallard J (ed) Advances in fragile X research. Nova Publishing, New York, pp 23–36

    Google Scholar 

  • Cornish KM, Wilding J (2010) Attention, genes & developmental disorders. Oxford University Press, New York

    Book  Google Scholar 

  • Cornish KM, Munir F, Cross G (1998) The nature of the spatial deficit in young females with Fragile-X syndrome: a neuropsychological and molecular perspective. Neuropsychologia 36(11):1239–1246

    Article  PubMed  CAS  Google Scholar 

  • Cornish KM, Munir F, Cross G (1999) Spatial cognition in males with Fragile-X syndrome: evidence for a neuropsychological phenotype. Cortex 35(2):263–271

    Article  PubMed  CAS  Google Scholar 

  • Cornish KM, Munir F, Wilding J (2001a) A neuropsychological and behavioural profile of attention deficits in fragile X syndrome. Rev Neurol 1:S24–S29

    Google Scholar 

  • Cornish KM, Munir F, Cross G (2001b) Differential impact of the FMR-1 full mutation on memory and attention functioning: a neuropsychological perspective. J Cogn Neurosci 13(1):144–150

    Article  PubMed  CAS  Google Scholar 

  • Cornish KM et al (2004a) Annotation: deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach. J Child Psychol Psychiatry 45(6):1042–1053

    Article  PubMed  CAS  Google Scholar 

  • Cornish K, Sudhalter V, Turk J (2004b) Attention and language in fragile X. Ment Retard Dev Disabil Res Rev 10(1):11–16

    Article  PubMed  Google Scholar 

  • Cornish KM, Levitas A, Sudhalter V (2007a) Fragile X syndrome: the journey from genes to behavior. In: Mazzocco MMM, Ross JL (eds) Neurogenetic developmental disorders: manifestation and identification in childhood. MIT Press, Cambridge, MA, pp 73–103

    Google Scholar 

  • Cornish KM, Scerif G, Karmiloff-Smith A (2007b) Tracing syndrome-specific trajectories of attention across the lifespan. Cortex 46(3):672–685

    Article  Google Scholar 

  • Cornish KM, Turk J, Hagerman R (2008) The fragile X continuum: new advances and perspectives. J Intellect Disabil Res 52(6):469–482

    Article  PubMed  CAS  Google Scholar 

  • Costello JE, Erkanli A, Angold A (2006) Is there an epidemic of child or adolescent depression? J Child Psychol Psychiatry 47(12):1263–1271

    Google Scholar 

  • Fisch GS et al (1999) Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: growth, development, and profiles. Am J Med Genet 83(4):257–263

    Article  PubMed  CAS  Google Scholar 

  • Fisch GS, Simensen RJ, Schroer RJ (2002) Longitudinal changes in cognitive and adaptive behavior scores in children and adolescents with the fragile X mutation or autism. J Autism Dev Disord 32(2):107–114

    Article  PubMed  Google Scholar 

  • Foley DL et al (2004) Childhood adversity, monoamine oxidase. A genotype, and risk for conduct disorder. Arch Gen Psychiatry 16:738–744

    Article  Google Scholar 

  • Fombonne E (2003) Epidemiological surveys of autism and other pervasive developmental disorders. J Autism Dev Disord 33:365–382

    Article  PubMed  Google Scholar 

  • Gillberg C, Coleman M (2000) The biology of the autistic syndromes, 3rd edn. Mac Keith Press, London UK

    Google Scholar 

  • Gillberg C, Steffenburg S (1987) Outcome and prognostic factors in infantile autism and similar conditions. A population based study of 46 cases followed through puberty. J Autism Dev Disord 17:273–287

    Article  PubMed  CAS  Google Scholar 

  • Gong X et al (2008) Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 147B:830–835

    Article  PubMed  Google Scholar 

  • Hagerman R (2008) The fragile X prevalence paradox. Br Med J 45(8):498–499

    Google Scholar 

  • Hatton DD et al (2002) Problem behavior in boys with fragile X syndrome. Am J Med Genet 108(2):105–116

    Article  PubMed  Google Scholar 

  • Hatton D et al (2009) Developmental trajectories of young girls with fragile x syndrome. Am J Intellect Dev Disabil 114(3):161–171

    Article  PubMed  Google Scholar 

  • Holtmann M, Bölte S, Poustka F (2007) Autism spectrum disorders: sex differences in autistic behaviour domains and coexisting psychopathology. Dev Med Child Neurol 49(5):361–366

    Article  PubMed  Google Scholar 

  • Hooper SR et al (2000) Nonverbal assessment of cognitive abilities in children with fragile X syndrome: the utility of the Leiter International Performance Scale-Revised. J Psychoeduc Assess 18:255–267

    Article  Google Scholar 

  • Kanner L (1943) Autistic disturbances of affective contact. Nerv Child 2:217–250

    Google Scholar 

  • Kennan K, Shaw D (1997) Developmental and social influences on young girls early problem behaviour. Psychol Bull 121:95–113

    Article  Google Scholar 

  • Keysor CS et al (2002) Physiological arousal in females with fragile X or Turner syndrome. Dev Psychobiol 41(2):133–146

    Article  PubMed  Google Scholar 

  • Kirk JW, Mazzocco MM, Kover ST (2005) Assessing executive dysfunction in girls with fragile X or Turner syndrome using the contingency naming test (CNT). Dev Neuropsychol 28:755–777

    Article  PubMed  Google Scholar 

  • Klin A (2009) Embracing the challenge of bold theories of autism. Br J Psychol 100(1):29–32

    Article  PubMed  Google Scholar 

  • Kogan CS et al (2004) Differential impact of the FMR1 gene on visual processing in fragile X syndrome. Brain cogn 127(3):591–601

    Article  Google Scholar 

  • Kopp S, Gillberg C (1992) Girls with social deficits and learning problems: autism, atypical Asperger syndrome or a variant of these conditions. Eur Child Adolesc Psychiatry 1(2):89–99

    Article  Google Scholar 

  • Kovar C (1993) The neurocognitive phenotype of Fragile X girls. Unpublished master’s thesis, University of Denver, Denver, Colorado

    Google Scholar 

  • Koyama T et al (2008) Cognitive and symptom profiles in Asperger's disorder and high-functioning autism. Seishin Shinkeigaku Zasshi 110(6):469–474

    PubMed  Google Scholar 

  • Lachiewicz AM, Dawson DV, Spiridigliozzi GA (2000) Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet 92(4):229–236

    Article  PubMed  CAS  Google Scholar 

  • Lanfranchi S et al (2008) Working memory in individuals with fragile X syndrome. Child Neuropsychol 15(2):105–119

    Article  PubMed  Google Scholar 

  • Le Couteur A et al (1989) Autism diagnostic interview: a standardized investigator-based instrument. J Autism Dev Disord 19(3):363–387

    Article  PubMed  Google Scholar 

  • Lemon J et al (2010) Brief Report: Executive functioning in Autism Spectrum Disorders: A gender comparison of response inhibition. J Autism Dev Disord (in press)

    Google Scholar 

  • Lewinsohn PM, Rohde P, Seeley JR (1998) Major depressive disorder in older adolescents: prevalence, risk factors and clinical implications. Clin Psychol Rev 18(7):765–794

    Article  PubMed  CAS  Google Scholar 

  • Lightbody AA, Hall SS, Reiss AL (2006) Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet 141B(5):468–472

    Article  PubMed  PubMed Central  Google Scholar 

  • Liu K, Zerubavel N, Bearman P (2010) Social demographic change for autism. Demography 47(2):327–343

    Article  PubMed  PubMed Central  Google Scholar 

  • Loesch DZ et al (2007) Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev 31(3):315–326

    Article  PubMed  PubMed Central  Google Scholar 

  • Lord C, Schopler E, Revicki D (1982) Sex differences in autism. J Autism Dev Disord 12(4): 317–330

    Article  PubMed  CAS  Google Scholar 

  • Mazzocco MMM, Pennington BF, Hagerman RJ (1993) The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr 14(5):328–335

    Article  PubMed  CAS  Google Scholar 

  • Mazzocco M et al (1998) Social functioning among girls with fragile X or Turner syndrome and their sisters. J Autism Dev Disord 28(6):509–517

    Article  PubMed  CAS  Google Scholar 

  • McLennan J, Lord C, Schopler E (2005) Sex differences in higher functioning people with autism. J Autism Dev Disord 23(2):217–227

    Article  Google Scholar 

  • Miller LJ et al (1999) Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet 83:268–279

    Article  PubMed  CAS  Google Scholar 

  • Minshew N (1991) Indices of neural function in autism: clinical and biologic implications. Pediatrics 87(5):774–780

    PubMed  CAS  Google Scholar 

  • Munir F, Cornish KM, Wilding J (2000) Nature of the working memory deficit in Fragile-X syndrome. Brain Cogn 44(3):387–401

    Article  PubMed  CAS  Google Scholar 

  • Nolen-Hoeksema S, Larson J, Grayson C (1999) Exploring the gender differences in depressive symptoms. J Per Soc Psychol 77:1061–1072

    Article  CAS  Google Scholar 

  • Nyden A, Hjelmquist E, Gillberg C (2000) Autism spectrum and attention-deficit disorders in girls. Some neuropsychological aspects. Eur Child Adolesc Psychiatry 9(3):180–185

    Article  PubMed  CAS  Google Scholar 

  • Philofsky A et al (2004) Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome. Am J Ment Retard 109(3):208–218

    Article  PubMed  Google Scholar 

  • Pilowsky T et al (1988) The Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: differences between diagnostic systems and comparison between genders. J Autism Dev Disord 28(2):143–151

    Article  Google Scholar 

  • Pilowsky T et al (1998) The Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: differences between diagnostic systems and comparison between genders. J Autism Dev Disord 28(2):143–151

    Article  PubMed  CAS  Google Scholar 

  • Reddy KS (2005) Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet 6(3). doi:10.1186/1471-2350-6-3

    Google Scholar 

  • Roberts J et al (2007) Receptive vocabulary, expressive vocabulary, and speech production of boys with fragile X syndrome in comparison to boys with Down syndrome. Am J Ment Retard 112(3):177–193

    Article  PubMed  Google Scholar 

  • Rogers SJ, Wehner EA, Hagerman R (2001) The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 22(6):409–417

    Article  PubMed  CAS  Google Scholar 

  • Rutter M (1989) Isle of Wight revised: twenty five years of child psychiatry epidemiology. J Am Acad Child Adolesc Psychiatry 28:633–643

    Article  PubMed  CAS  Google Scholar 

  • Rutter M (2005) Aetiology of autism: findings and questions. J Intellect Disabil Res 49(4):231–238

    Article  PubMed  CAS  Google Scholar 

  • Rutter M (2008) Introduction: whither gene-environment interactions. Novartis Found Symp 293:1–12; 68–70

    Google Scholar 

  • Rutter M, Caspi A, Moffitt T (2003) Using sex differences in psychopathology to study causal mechanisms: unifying issues and research strategies. J Child Psychol Psychiatry 44(8):1092–1115

    Article  PubMed  Google Scholar 

  • Scerif G et al (2004) Visual search in typically developing toddlers and toddlers with Fragile X or Williams syndrome. Dev Sci 7(1):116–130

    Article  PubMed  Google Scholar 

  • Scerif G et al (2007) Delineation of early attentional control difficulties in fragile X syndrome: focus on neurocomputational changes. Neuropsychologia 45(8):1889–1898

    Article  PubMed  PubMed Central  Google Scholar 

  • Schopler E, Reichter RJ, Renner A (1988) The childhood autism rating scale (CARS). Western Psychological Services, Los Angeles

    Google Scholar 

  • Skinner M et al (2005) Mapping nonverbal IQ in young boys with fragile X syndrome. Am J Med Genet A 132A:25–32

    Article  PubMed  Google Scholar 

  • Skuse D (2000) Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatr Res 47(1):9

    Article  PubMed  CAS  Google Scholar 

  • Skuse D (2009) Is autism really a coherent syndrome in boys, or girls? Br J Psychol 100(Pt 1): 39–47

    Google Scholar 

  • Soppitt R (2006) Clinical observations in children with autistic spectrum disorders. Autism 10:429

    Article  PubMed  Google Scholar 

  • Sullivan K et al (2007) Sustained attention and response inhibition in boys with fragile X syndrome: measures of continuous performance. Am J Med Genet B Neuropsychiatr Genet 144B(4):517–532

    Article  PubMed  Google Scholar 

  • Thompson T, Caruso M, Ellerbeck K (2003) Sex matters in autism and other developmental disabilities. J Intellect Disabil 7(4):345–362

    Article  Google Scholar 

  • Tsai LY, Beisler JM (1983) The development of sex differences in infantile autism. Br J Psychiatry 142:373–378

    Article  PubMed  CAS  Google Scholar 

  • Turk J (1998) Fragile X syndrome and attentional deficits. J Appl Res Intellect Disabil 11:175–191

    Article  Google Scholar 

  • Turk J, Cornish K (1998) Face recognition and emotion perception in boys with fragile-X syndrome. J Intellect Disabil Res 42(6):490–499

    Article  PubMed  Google Scholar 

  • Volkmar FR, Szatmari P, Sparrow SS (1993) Sex differences in pervasive developmental disorders. J Autism Dev Disord 26(4):579–591

    Article  Google Scholar 

  • Walenski M et al (2008) Brief report: enhanced picture naming in autism. J Autism Dev Disord 37(8):1395–1399

    Article  Google Scholar 

  • Wassink TH, Piven J, Patil SR (2001) Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatr Genet 11(2):57–63

    Article  PubMed  CAS  Google Scholar 

  • Wilding J, Cornish K, Munir F (2002) Further delineation of the executive deficit in males with fragile-X syndrome. Neuropsychologia 40(8):1343–1349

    Article  PubMed  Google Scholar 

  • Wolff P et al (1989) The greeting behavior of fragile X males. Am J Ment Retard 93(4):406–411

    PubMed  CAS  Google Scholar 

  • World Health Organisation (1992) The ICD-10 classification of mental and behavioural disorders: Clinical descriptions and diagnostic guidelines. World Health Organisation, Geneva

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Centre for Developmental Psychiatry and Psychology, School of Psychology and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia

    Nicole J. Rinehart, Kim M. Cornish & Bruce J. Tonge

Authors
  1. Nicole J. Rinehart
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kim M. Cornish
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Bruce J. Tonge
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Bradford School of Pharmacy, University Bradford, Bradford, W.Yorkshire, BD7 1DP, United Kingdom

    Jo C. Neill

  2. Monash Alfred Psychiatry Research Centre, Commercial Rd., Melbourne, 3004, Australia

    Jayashri Kulkarni

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Rinehart, N.J., Cornish, K.M., Tonge, B.J. (2010). Gender Differences in Neurodevelopmental Disorders: Autism and Fragile X Syndrome. In: Neill, J., Kulkarni, J. (eds) Biological Basis of Sex Differences in Psychopharmacology. Current Topics in Behavioral Neurosciences, vol 8. Springer, Berlin, Heidelberg. https://doi.org/10.1007/7854_2010_96

Download citation

Publish with us

Policies and ethics

Search

Navigation