Advertisement

Rett Syndrome: Recognition of Facial Expression and Its Relation to Scanning Patterns

  • Author Footnotes
    1 These authors share first authorship of this article.
    Aleksandra Djukic
    Footnotes
    1 These authors share first authorship of this article.
    Affiliations
    Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York
    Search for articles by this author
  • Author Footnotes
    1 These authors share first authorship of this article.
    Susan A. Rose
    Correspondence
    Communications should be addressed to: Dr. Rose; Department of Pediatrics; Van Etten, Rm 420; Children's Hospital at Montefiore; Albert Einstein College of Medicine; 1300 Morris Park Avenue; Bronx, New York 10461.
    Footnotes
    1 These authors share first authorship of this article.
    Affiliations
    Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York
    Search for articles by this author
  • Jeffery J. Jankowski
    Affiliations
    Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York

    Department of Social Sciences, Queensborough Community College, City University of New York, New York
    Search for articles by this author
  • Judith F. Feldman
    Affiliations
    Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York
    Search for articles by this author
  • Author Footnotes
    1 These authors share first authorship of this article.

      Abstract

      Background

      Rett syndrome is a severely disabling neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. Very little is known about its cognitive phenotype and nothing about recognition of emotional expression, a key factor for social interaction and communication. Using eye tracking technology, a technique uniquely suited for studying cognition in this disorder, we examined this ability here.

      Methods

      Rett syndrome female patients (n = 37; 2-31 years) and a typically developing age- and gender-matched comparison group (n = 34; 2-30 years) were assessed on recognition of three basic emotions (happy, sad, and fear) using six visual paired-comparison problems. Each problem consisted of a 10-second familiarization, in which two identical faces posing one emotion were presented, followed by a 10-second test, in which the familiar emotion was paired with a novel one posed by the same model. Recognition was inferred from preferential looking to the novel target on test. During familiarization, attention was measured by total looking time, number and/or length of fixations, and gaze dispersion across three key facial features (eyes, nose, and mouth).

      Results

      Individuals with Rett syndrome had difficulty recognizing most emotional expressions, unlike the typically developing comparison group. Also, their scanpaths were atypical—less looking, fewer and/or longer fixations, and less time devoted to all facial features (48% versus 72%), particularly the mouth. Significant correlations between looking to critical features and recognition underscored the importance of scanning.

      Conclusions

      Our results suggest that individuals with Rett syndrome have difficulty reading emotional expressions and that these problems are linked to atypicalities in scanning.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Pediatric Neurology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Rett A.
        On a unusual brain atrophy syndrome in hyperammonemia in childhood.
        Wien Med Wochenschr. 1966; 116: 723-726
        • Chahrour M.
        • Zoghbi H.Y.
        The story of Rett syndrome: from clinic to neurobiology.
        Neuron. 2007; 56: 422-437
        • Neul J.L.
        • Kaufmann W.E.
        • Glaze D.G.
        • et al.
        Rett syndrome: revised diagnostic criteria and nomenclature.
        Ann Neurol. 2010; 68: 944-950
        • Amir R.E.
        • Van den Veyver I.B.
        • Wan M.
        • Tran C.Q.
        • Francke U.
        • Zoghbi H.Y.
        Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
        Nat Genet. 1999; 23: 185-188
        • Kaufmann W.E.
        • Johnston M.V.
        • Blue M.E.
        MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.
        Brain Dev. 2005; 27: S77-S87
        • Moretti P.
        • Levenson J.M.
        • Battaglia F.
        • et al.
        Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.
        J Neurosci. 2006; 26: 319-327
        • Berger-Sweeney J.
        Cognitive deficits in Rett syndrome: what we know and what we need to know to treat them.
        Neurobiol Learn Mem. 2011; 96: 637-646
        • Djukic A.
        • Valicenti McDermott M.
        Social preferences in Rett syndrome.
        Pediatr Neurol. 2012; 46: 240-242
        • Djukic A.
        • Valicenti McDermott M.
        • Mavrommatis K.
        • Martins C.L.
        Rett syndrome: basic features of visual processing–a pilot study of eye-tracking.
        Pediatr Neurol. 2012; 47: 25-29
        • Rose S.A.
        • Djukic A.
        • Jankowski J.J.
        • Feldman J.F.
        • Fishman I.
        • Valicenti-Mcdermott M.
        Rett syndrome: an eye-tracking study of attention and recognition memory.
        Dev Med Child Neurol. 2013; 55: 364-371
        • von Tetzchner S.
        • Jacobsen K.H.
        • Smith L.
        • Skjeldal O.H.
        • Heiberg A.
        • Fagan J.F.
        Vision, cognition and developmental characteristics of girls and women with Rett syndrome.
        Dev Med Child Neurol. 1996; 38: 212-225
        • Adolphs R.
        • Tranel D.
        • Hamann S.
        • et al.
        Recognition of facial emotion in nine individuals with bilateral amygdala damage.
        Neuropsychologia. 1999; 37: 1111-1117
        • Baron-Cohen S.
        • Campbell R.
        • Karmiloff-Smith A.
        • Grant J.
        • Walker J.
        Are children with autism blind to the mentalistic significance of the eyes?.
        Br J Dev Psychol. 1995; 13: 379-398
        • Soken N.H.
        • Pick A.D.
        Intermodal perception of happy and angry expressive behaviors by seven-month-old infants.
        Child Dev. 1992; 63: 787-795
        • Peltola M.J.
        • Leppanen J.M.
        • Maki S.
        • Hietanen J.K.
        Emergence of enhanced attention to fearful faces between 5 and 7 months of age.
        Soc Cogn Affect Neurosci. 2009; 4: 134-142
        • Widen S.C.
        • Russell J.A.
        A closer look at preschoolers' freely produced labels for facial expressions.
        Dev Psychol. 2003; 39: 114-128
        • Rump K.M.
        • Giovannelli J.L.
        • Minshew N.J.
        • Strauss M.S.
        The development of emotional recognition in individuals with autism.
        Child Dev. 2009; 80: 1434-1447
        • Calvo M.G.
        • Nummenmaa L.
        • Avero P.
        Visual search of emotional faces. Eye-movement assessment of component processes.
        Exp Psychol. 2008; 55: 359-370
        • Calder A.J.
        • Young A.W.
        Understanding the recognition of facial identity and facial expression.
        Nat Rev Neurosci. 2005; 6: 641-651
        • Klin A.
        • Jones W.
        • Schultz R.
        • Volkmar F.
        • Cohen D.
        Visual fixation patterns during viewing of naturalistic social situations as predictors of social competence in individuals with autism.
        Arch Gen Psychiatry. 2002; 59: 809-816
        • Klin A.
        • Sparrow S.S.
        • de Bildt A.
        • Cicchetti D.V.
        • Cohen D.J.
        • Volkmar F.R.
        A normed study of face recognition in autism and related disorders.
        J Autism Dev Disord. 1999; 29: 499-508
        • Uljarevic M.
        • Hamilton A.
        Recognition of emotions in autism: a formal meta-analysis.
        J Autism Dev Disord. 2013; 43: 1517-1526
        • Pelphrey K.A.
        • Sasson N.J.
        • Reznick J.S.
        • Paul G.
        • Goldman B.D.
        • Piven J.
        Visual scanning of faces in autism.
        J Autism Dev Disord. 2002; 32: 249-261
        • Sparrow S.S.
        • Cicchetti D.V.
        • Balla D.A.
        Vineland Adaptive Behavior Scales.
        2nd ed. New Jersey NCS Pearson, Inc, Upper Saddle River2005
        • Kaufmann W.E.
        • Tierney E.
        • Rohde C.A.
        • et al.
        Social impairments in Rett syndrome: characteristics and relationship with clinical severity.
        J Intellect Disabil Res. 2012; 56: 233-247
        • Tottenham N.
        • Tanaka J.W.
        • Leon A.C.
        • et al.
        The NimStim set of facial expressions: judgments from untrained research participants.
        Psychiatry Res. 2009; 168: 242-249
        • Ekman P.
        Emotions Revealed.
        Owl Books, New York2003
        • Amso D.
        • Fitzgerald M.
        • Davidow J.
        • Gilhooly T.
        • Tottenham N.
        Visual exploration strategies and the development of infants' facial emotion discrimination.
        Front Psychol. 2010; 1: 180
        • Kotsoni E.
        • de Haan M.
        • Johnson M.H.
        Categorical perception of facial expressions by 7-month-old infants.
        Perception. 2001; 30: 1115-1125
        • Nelson C.A.
        • Dolgin K.G.
        The generalized discrimination of facial expressions by seven-month-old infants.
        Child Dev. 1985; 56: 58-61
        • Nelson C.A.
        • Morse P.A.
        • Leavitt L.A.
        Recognition of facial expressions by seven-month-old infants.
        Child Dev. 1979; 50: 1239-1242
        • Pelphrey K.A.
        • Reznick J.S.
        • Davis Goldman B.
        • et al.
        Development of visuospatial short-term memory in the second half of the 1st year.
        Dev Psychol. 2004; 40: 836-851
        • Rose S.A.
        Enhancing visual recognition memory in preterm infants.
        Dev Psychol. 1980; 16: 85-92
        • Rose S.A.
        Differential rates of visual information processing in full-term and preterm infants.
        Child Dev. 1983; 54: 1189-1198