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Carlo Semenza in collaboration with Radouane El Yagoubi and Elena Salillas GENETIC STUDIES OF MATHS a neuropsychologi

Basic Questions in the genetics of math -Is math ability genetically transmitted? To what extent? (twin and gender studies omitted from this review) -On which chromosomes? (main topic of this review) Other, less direct, question -Where in the brain, in the course of evolution, did math develo

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Carlo Semenza in collaboration with Radouane El Yagoubi and Elena Salillas GENETIC STUDIES OF MATHS a neuropsychologi

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    1. Carlo Semenza in collaboration with Radouane El Yagoubi and Elena Salillas GENETIC STUDIES OF MATHS (a neuropsychological perspective) NUMBRA Summer School Erice, July 3-10, 2005

    2. Basic Questions in the genetics of math -Is math ability genetically transmitted? To what extent? (twin and gender studies omitted from this review) -On which chromosomes? (main topic of this review) Other, less direct, question -Where in the brain, in the course of evolution, did math develop with respect to other functions?

    3. Chromosomic Syndromes QUESTIONS (1): -What is the main math defect characterizing the syndrome, if there is one? -Does the chromosomic defect lead to a generic or to a specific math disability? -Does the defect reflect lack of sources or lack of competence? -On which sort of evidence (i.e. tasks used in available investigations) are answers to the above questions based?

    4. Chromosomic Syndromes QUESTIONS (2): -What is the evidence that math low scores are not due to failures in education? -Is there a brain correlate of the chromosome defect and how does it compare to brain lesions in acquired acalculias? -Is something special connected with chromosome X? and chromosome Y? …..

    5. Chromosomic Syndromes Difficulties with most existing studies: -floor effects: low IQs, uniformly low, unrevealing performance, may need preliminary testing to calibrate for difficulty -what appear selective deficits may be function of the low level of performance (some task may be more difficult) -generic or complex tasks, not specifically testing math, often only global score in a multi-task battery provided -education level & exposure to math not controlled -comparisons among different syndromes seldom performed on the same tasks/materials -emotional & personality problems interfering

    6. DOWN PRADER WILLI FRAGILE X TURNER KLINEFELTER & extra Xs and Ys WILLIAMS

    7. Down Syndrome

    8. Down Syndrome (21 trisomy) IQ scores 20 or less = 5% 20-50 = 80% 50-70 =15%

    9. Down Syndrome relative weaknesses verbal abilities relative strengths spatial abilities

    10. Down Syndrome Number processing highly correlates with language abilities (Nye et al, 1995) Calculation abilities (Buckey & Sachs, 1987): One digit Operations: -50% can add -33% can subtract -6% can multiply -3% can divide

    11. Down Syndrome Calculation -Vernon arithmetic- (Carr, 1988): 83% could do something 63% recognize numbers 23% can add two figures 15% can subtract two figures

    12. Down Syndrome Calculation (Shepperson, 1994): DS can improve their math abilities in adult age, even if when 18 y.o. they had no numerical abilities

    13. Down Syndrome Paterson, Girelli, Butterworth and Karmiloff-Smith (in press) Numerosity comparison Infant DS fail to reach the level of mental-age matched controls Older DS show robust distance effect (unlike WS)

    14. Prader Willi Syndrome

    15. Prader Willi Syndrome Chromosome 15 deficit: -deletion 2/3 -disomy 1/3

    16. Prader Willi Syndrome -neonatal hypotonia -hypogonadism -obesity -dismorphic facial appearence -mental deficiency & temper tantrums

    17. Prader Willi Syndrome Mean typical IQ = 50 – 70 reported weaknesses: sequential processing STmemory reading and writing math (worse than anything else !!!) reported strengths: spatial/perceptual organization visual processing outperform normals at jigsaw puzzles!!!

    18. Prader Willi Syndrome In literature, PWS were anecdotically reported to be particularly weak at math with respect to other cognitive tasks: -is this true? -if true, is it an across-the-board defect?

    19. PWS Study 1 Bertella, Girelli, Marchi, Molinari and Semenza, 2005 WAIS scores differences PWS (n = 18) vs Intellectually Disabled (n = 10) Information 0.12 Comprehension 0.06 Arithmetic 0.0084*** Analogy 0.11 Memory: digit span 0.12 Vocabulary 0.80 Digit symbol 0.08 Picture completion 0.29 Block design 0.46 Picture arrangement 0.64 Object assembly 0.51 Verbal IQ 68.72 (11.07) vs 69.44 (7.54) Performance IQ 70.11 (7.43) vs 67.33 (14.38) Full-scale IQ 67.11 (8.96) vs 68.22 (6.59)

    20. PWS Study 1 Mean z-scores in each subtest of the Spinnler and Tognoni’s neuropsychological test battery PWS (n = 18) Mean SD Temporal orientation 0.17 0.35 Verbal span -2.34 0.65 Spatial span Corsi’s blocks test -2.23 0.99 Semantic incidental memory -2.08 1.29 Phonemic incidental memory -2.61 1.26 Number cancellation test -2.93 1.49 Elithorn perceptual maze test -2.26 1.80 ***Arithmetic -10.17 4.80 Token test -3.91 2.60 Category naming -1.46 0.66 Constructional apraxia -1.96 1.35 Finger agnosia test -2.96 2.57 Street completion test -1.62 0.90

    21. PWS Study 1 Conclusions: - PWS are worse than unselected ID in arithmetic - PWS are worse in math tasks relatively to a great variety of other neuropsychological functions This confirms previous anecdotal reports

    22. PWS study 2 (Bertella , Girelli, Marchi, Molinari and Semenza, 2005)

    23. PWS study 2 Error analysis: -in transcoding tasks, PWS tend to commit “syntactic” errors -with multiplication facts a prevalence of operand errors -with arithmetical procedures problems of the “lack of monitoring” type

    24. PWS Study 3 Semenza C, Bertella L, Pignatti R, Mori I, Ceriani F, Molinari E and Grugni G (in preparation) 20 PWS participants: 5 disomy, 15 deletion; 11F 9M Age: 28.65 (5.14) Ed: 9.1 (1.8) PWS: tot IQ 58.35 (9.39); vIQ 58.30 (11.21); pIQ 66.70 (8.49) PWS Dis: tot IQ 61.40 (6.58); vIQ 62.60 (12.15); pIQ 68.00 (6.63) PWS Del: tot IQ 57.33 (9.01); vIQ 56.86 (8.29); pIQ 66.26 (12.54)

    25. PWS Study 3 Number processing

    26. PWS study 3 Calculation

    27. PWS study 3 Number processing

    28. PWS study 3 Calculation

    29. PWS study 3 Main conclusions PWS equal (better than?) normals in Analog number scale; close to chance in parity judgements Deletion worse than disomy in parity judgements and in transcoding Arabic Deletion and disomy double dissociate????

    30. Fragile X Syndrome

    31. Fragile X Syndrome Mutation in FMR1 gene on Chr. X female (1:4000), mental retardation in 50%. male (1:2000), mental retardation in most. Great IQ variability.

    32. Fragile X Syndrome reported cognitive strengths -vocabulary -memory for situations -music reported cognitive weaknesses: -visuospatial processing -working memory and executive functioning -visual-motor coordination -poor arithmetic skills

    33. Fragile X Syndrome (Mazzocco, 2002) FX girls vs full scale IQ matched controls are worse in math tasks like numeration and geometry

    34. Turner syndrome (X0)

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