Child Neurology - isnvenice

Neurodevelopmental Pathways to Behavioural Phenotypes

San Servolo, Venice, Italy - October 12-14, 2000

Secretary: Santa Croce 1626 - 30100 Venezia Italy
Tel. e Fax: 39(41)721.053 - Fax: 39(41)529.4555
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Thursday, October 12, 2000
2.00-4.30 pm SSBP Committee meeting
4.30-6.30 pm Registrations
6.30-7.10 pm Welcome Reception
7.20 pm Boat to San Zaccaria (next boat a 8.10pm)

Friday, October 13, 2000
9.20 am Boat to San Servolo from San Zaccaria
9.30 am Registrations
9.45-10.00 am Introductory remarks - Professor Paolo Curatolo
10.00 am
Session 1: Behavioural Phenotypes of Neurogenetic Syndromes
Chair: Dr Martin Bax
10.00-10.45 am Paper 1
Keynote Lecture: Tourette Syndrome and associated disorders.
Mary Robertson, University College London, UK

10.45-11.15 am Coffee and visit to posters
11.15 am Paper 2
The del (9p) Syndrome: a distinctive behavioural phenotype?
Agatino Battaglia, D Brizzolara, A Chilosi, P Cipriani, L Pfanner and J C Carey, Stella Maris Scientific Research Institute, University of Pisa, Italy
11.30 am..Paper 3
Autism in Down's Syndrome: A family history study.
Mohammad Ghazziudin, Taubman Centre, University of Michigan Medical Center, Ann Arbor, USA
11.45 am Paper 4
Is it valid to distinguish between Asperger Syndrome and high functioning autism on the basis of early language development?
Pat Howlin, St George's Hospital Medical School, London, UK
12.00 noon Paper 5
Is poor Executive Function present in Myotonic Dystrophy out of Proportion to other aspects of Neuropsychologic Function ?
G.Miller, T.Ashizawa, Houston, TX, USA
12.15pm Paper 6
The behavioural phenotype in Fragile X: symptoms of autism in very young children with Fragile X syndrome, Idiopathic Autism and other developmental disorders.
Sally Rogers, E A Wehner and R Hagerman, University of Colorado Health Sciences Center, Denver, Colorado, USA

12.30-2.00pm Lunch and walk in the botanical gardens

2.00 pm Session 2: Advances in Molecular Genetics
Chair: Professor Pat Howlin
2.00-2.45 pm Paper 7
Keynote Lecture: Gene silence is golden in the Rett Syndrome phenotype
Alan Percy, Department of Pediatrics, Neurology and Neurobiology, University of Alabama at Birmingham School of Medicine, USA
2.45-3.15 pm Paper 8
Invited Lecture: The Johns Hopkins HPRT deficiency study: studies of brain and behavior in 28 males and one female subject with Lesch-Nyhan Disease and its variants.
James Harris, Johns Hopkins University School of Medicine, Baltimore, USA
3.15 pm Paper 9
The relationship between eating disorder, compulsion,self-injury and challenging behaviour in Prader-Willi Syndrome.
Chris Oliver, School of Psychology, University of Birmingham, UK
3.30-4.00 pm Tea and visit to posters
4.00 pm Paper 10
Cerebellar tremor and cerebellar cortical atrophy in older males with the Fragile X premutation.
Randi Hagerman, F Tassone, W Landau, M Lahey, J Hill, R Wilson and P J Hagerman, Child Development Unit, The Children's Hospital, Denver, Colorado, USA.
4.15 pm. Paper 11
Schizophrenia and chromosome 22.
Giuseppe Novelli and A De Luca, "Tor Vergata" Rome, Italy.
4.30 pm Paper 12
Aggression, antisocial behaviour and the sex chromosome aneuplodies.
Greg O'Brien, Northgate Hospital, Morpeth, Northumberland, UK
4.45 pm Paper 13
Conversational abilities in individuals with Williams Syndrome.
Vesna Stojanovik, M Perkins and S Howard, Department of Human Communication Sciences, University of Sheffield, UK
5.00 pm Paper 14
Clinical and molecular correlations in individuals with a Fragile X full mutation
Flora Tassone, R J Hagerman, S Harris and P J Hagerman, Child Development Unit, The Children's Hospital, Denver, Colorado, USA
5.15-5.45 pm SSBPAGM - all welcome
6.00 pm Boat to San Zaccaria
8.00 pm Meet in Piazza San Marco for Social Dinner at 8.30 pm


Saturday, October 14, 2000

9.20 am Boat from San Zaccaria to San Servolo
9.30 am Session 3
Strategies to investigate brain structure and function
Chair: Professor James Harris
9.30-10.15 am Paper 15
Keynote Lecture: Electrophysiological strategies
Dr Stefano Seri, Birmingham Children Hospital, Birmingham, UK
10.15 am Paper 16
Brain factors underlying the intellectual impairments in Tuberous Sclerosis.
Patrick Bolton, R Park, R Crawley, P Giffiths, N Higgins and P De Vries, Developmental Psychiatry Section, University of Cambridge, UK
10.30 am Paper 17
Identifying molecular-behaviour-brain correlates in females with the FMR-1 full-mutation: A neuropsychological - fMRI study
Kim Cornish and B Park, Division of Psychiatry, University of Nottingham, UK
10.45 am Paper 18
X-chromosome trinucleotide repeats: effect on brain structure.
Eileen M Daly, C J Moore, K C Murphy, T A M J van Amelsvoort and D Murphy, Institute of Psychiatry, London, UK
11.00 am Paper 19
Age-related characteristics of genetic abnormalities producing cognitive impairment: the fragile x mutation, williams syndrome, and neurofibromatosis type 1
Fisch GS, Carpenter N, Howard-Peebles PN, Tarleton J, Simensen R, Holden JJA
11.15-11.45 am Coffee and visit to posters
11.45-12.45 am Posters Discussion

12.45-2.00 Lunch

2.00 pm Session 4:
Practical intervention strategies
Chair: Professor Paolo Curatolo
2.00-2.45pm Paper 20
Keynote Lecture: Pratical management of emotional & behavioural disturbances in individuals with genetically determined behavioural phenotypes
Martin Bax, Cheyne Child Development Service &Jeremy Turk, St George's Hospital Medical School, London, UK
2.45 pm Paper 21
Behavioural and emotional features of Rett Syndrome: Development of the Rett Syndrome Checklist.
Tony Charman, R Mount, R Hastings, S Reilly and H Cass, Institute of Child Health, University College London, UK
3.00 pm Paper 22
Behavioural phenotype in 9 adolescent and adult individuals with Angelman Syndrome.
Mie-Jef Descheemaeker, G van Buggenhout, E Vranken, I Abrams, K Leyman, N Blanckaert, B De Vos, P Thiry and J P Fryns, Centre for Human Genetics, University Hospital of Leuven, Belgium
3.15 pm Paper 23
Psychopathology and familial stress - comparison of boys with Fragile X syndrome and spinal muscular atrophy.
Alexander von Gontaard, M Backes, C Wendland, C Laugersweiler-Plass, K Zerres and S Rudnik-Schneborn, Department of Child Psychiatry, Unviersity of Cologne, Germany
3.30-4.00 pm Tea
4.00 pm. Paper 24
Pharmacological reactivation of the fMR1 gene of the Fragile X Syndrome.
Giuseppe Neri, P Chiurazzi, M G Pomponi, R Pietrobono, G Torriolo, M Calvani and B Oostra, Institute of Medical Genetics, Catholic University, Rome, Italy
4.15 pm Paper 25
Behavioural changes occurring with cholesterol supplementation in individuals with Smith-Lemli-Opitz Syndrome.
Elaine Tierney, N A Nwokora, F D Porter and R I Kelly, Kennedy Krieger Institute, Baltimore MD, USA
4.30 pm Paper 26
An investigation of the neuropsychological profile in Velocardiofacial Syndrome.
JC Henry, T van Amelsvoort, R G Morris, M J Owen, K C Murphy and D G M Murphy, Institute of Psychiatry, London, UK
4.45 pm Close of meeting
5.30 pm Boat to San Zaccaria



Poster 1. Pandas (Paediatric Autoimmune Neuropsychiatric Disorder Associations) Are They An Endangered Species ?
Kenneth J Aitken, Leamington Place, Edimburgh, UK
Poster 2 Craniofacial Dysmorphogenesis - A Specific Marker For Clinical Disorder, Or The New Phrenology ?
Kenneth J Aitken, , Leamington Place, Edimburgh, UK
Poster 3. Communicative And Problem Behaviours In Children With Cornelia De Lange Syndrome
Kate Arron, University of Birmingham, Birmingham, UK
Poster 4. Medical And Neurological Problems In Fragile X Syndrome. Results Of A National Questionaire.
Josep Artigas , Brun C, Gabau E, Guitart M, Lorente I.
Hospital de Sabadell, Sabadell, Barcelona, Spain.
Poster 5. Autistic Behaviors In FG Syndrome S Baieli, Sorge G, Marzullo E, Mauceri L, Fiumara A.
Clinica Pediatrica. Dipartimento di Neurologia
Pediatrica.Università di Catania, Italy
Poster 6. A Pilot Study Serotonin System Genes And Aggressive Behavior In Children: Preliminary Findings
Joseph Beitchman, J Kennedy, L Atkinson, M. Seto, J Quist,
J Pozzulo. Center for Addiction and Mental Health, Toronto,Canada
Poster 7. Researchdata On Cognitive And Behavioural Characteristics In Families With Non-Specific Mental Retardation
Martine Borghgraef, J Steyaert, S Frintz and J P Fryns
Center For Human Genetics, University of Leuven (Belgium)
Center for Clinical Genetics, University of Maastricht (The
Poster 8. Behavioural Phenotype In Adenylsuccinate Lyase Deficiency
Francesca Ciardo, C. Salerno, D. De Luca, P. Curatolo
Child Neurology and Psychiatry, Tor Vergata University of
Rome, Italy
Poster 9. Kabuki Syndrome: Cognition And Behavior
Leopold MGCurfs*¹, v.d. Vlugt H², Berndsen-Peeters J²,
Schrander-Stumpel CTRM.¹ *¹Clinical Genetics Centre,
Maastricht, and ²Department of Neuropsychology,
Tilburg University, The Netherlands
Poster 10. The Development Of Cingulate Cortex In Human Fetuses.
Leonardo C. deAzevedo 1,2; C Hedin-Pereira 2; R Lent 2
1Serviço de Neurologia, Instituto Fernandes Figueira (IFF-
FIOCRUZ); 2Departamento de Anatomia, Instituto de Ciências
Biomédicas (IBC-UFRJ) Rio de Janeiro - BRAZIL
Poster 11. Speech Fluency And Voice In Prader-Willi Syndrome.
Truus Defloor, Van Borsel J., Curfs L. University of Gent,
Belgium and Clinical Genetics Center, The Netherlands.
Poster 12. Specific Cognitive Deficits In Tuberous Sclerosis
Petrus J. de Vries and Patrick F Bolton
Developmental Psychiatry Section, University of Cambridge,
Cambridge, UK
Poster 13. Stimulants And Antedepressants In Aspergers/Adhd: Multiple Targeted Therapy Or Polypharmacy
David Dossetor & Judy Longworth, Department of
Psychological Medicine, New Children's Hospital,
Parramatta, Australia
Poster 14. Re-Analysing Block Design In Williams Syndrome
Emily K Farran, C Jarrold, S E Gathercole. Department of
Experimental Psychology, Bristol, UK
Poster 15. Wolf-Hirschhorn Syndrome (Whs): Educational Aspects And Long Terme Prognosis
Veerle Govers, G Van Buggenhout, M Borghgraef, M-J
Descheemaeker, A Swillen and D Willekens, Jean-Pierre Fryns
Centre for Human Genetics, University of Leuven, Belgium
Poster 16. The Electrophysiology Of Face Perception In Williams Syndrome
Sarah Grice. Neurocognitive Development Unit, Istitute of
Child Health, London, UK
Poster 17. Atypical Autism In Maternally Derived Interstitial Duplication Of Proximal 15q
Fiorella Gurrieri, L. Torrisi, E. Sangiorgi, L. Russo, M. Zollino, G. Neri
Institute of Medical Genetics, Catholic University of Rome, Italy
Poster 18. The Adult Cognitive Profile Of Developmental Language Disorder: Evidence For Underlying Deficits In Phonological
Processing And Theory Of Mind
Chris Hollis, Clegg J., Rutter M. Section of Developmental
Psychiatry, Division of Psychiatry, Queen's Medical Centre,
Nottingham, UK
Poster 19. A New Genetic Link In The Aetiology Of Schizophrenia? Two Northern Irish Cases Of Chromosome 22q11 Deletion
Damien Hughes, M G A McGinnity, F Stewart and P Talbot
Muckamore Abbey Hospital, Muckamore, Antrim, UK
Poster 20. New Developments In Rett Syndrome: Matching Genotype To Phenotype
Alison M Kerr, Glasgow University Department of
Psychological Medicine, Gartnavel Royal Hospital, Glasgow, UK
Poster 21. A Structural Mri Study Of Brain Volume, Grey And White Matter Density In Adults With Autistic Spectrum Disorder (High
Grainne M McAlonan, E.Daly, H.Critchley, J.Suckling, A.
Russell, T. Sigmundsson, K.Greenwood, D.Murphy. Institiute of
Psychiatry, DeCrespigny Park, London, U.K.
Poster 22. Prepulse Inhibition Of The Startle Reflex In Autistic Spectrum Disorder.
Grainne M McAlonan, V Kumari, M A Geyer (1), D G M
Murphy. Institute of Psychiatry, DeCrespigny Park, London,
U.K. (1) Dept Of Psychiatry, University of California, San Diego, U.S.A
Poster 23. No Association Between Polymorphisms Of Catechol-O-Methyltransferase (COMT) Or Monoamine Oxidase (MAO) Genes And Schizophrenia In Adults With Velo-Cardio-Facial Syndrome
Kieran C Murphy 1 and MJ Owen 2
1Division of Psychological Medicine, Institute of Psychiatry, De
Crespigny Park, London; 2 Division of Psychological
Medicine, University of Wales College of Medicine, Cardiff
Poster 24. Pharmacological And Psychological Intervention Strategies In The Management Of Patients With Fetal Alcohol Spectrum Disorders.[FASD]
Kieran D.O' Malley MB, Department of Psychiatry and Behavioral
Sciences, Fetal Alcohol and Drug Unit, University of Washington,
Seattle, WA
Poster 25. Behavioral Phenotype In A Case Of 49xxxxy Syndrome
Lorenzo Orlandi, C Galasso, F Fabbri, C Silvestri, F Ciardo, P
Curatolo, Child Neuropsychiatry Tor Vergata University of
Rome, Italy
Poster 26. Neurological Manifestations Of Tuberous Sclerosis.
Doina-A. Plesca, Buruiana F., Dragomir D., Pop C.D. Department of
Pediatric Neurology, "Dr. Victor Gomoiu" Children's Hospital,
Bucharest, Romania
Poster 27. Cognitive And Neuropsychological Profile Of Multiple Complex Developmental Disorder
Maria Romani, B. Mazzoncini, G.Levi.
Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età
Evolutiva, Università degli Studi di Roma "La Sapienza".
Poster 28. Autism In Children , Neurological And Neuropsychological Approach.
Julia E Sadovskaya, Vinogradova A.L., Zakharova I. Center for
Curative Pedagogics, Russian Federation President's Medical
Center Moscow, Russia
Poster 29. A 1H-MR Spectroscopy Study Investigating The Hippocampal-Amygdala Complex And The Cerebellum In People With Autistic Spectrum Disorder.
Nicole Schmitz, E. Daly, G. McAlonan, A. Simmons, D.G.M
Murphy. Institute of Psychiatry, De Crespigny Park, London, UK
Poster 30. Sudden Death In Patietns With Prader-Willi Syndrome: A Call For Collaboration
Connie Schrander-Stumpel, Leopold Curfs, Jean-Pierre Fryns
Department of Clinical Genetics (CS-S, LC, JPF), Academic
Hospital Maastricht, The Netherlands; Center for Human Genetics
(JPF), University Hospital Leuven, Leuven, Belgium
Poster 31. Behaviours In Cornelia De Lange Syndrome
Jenny Sloneem
School of Psychology, University of Birmingham, Edgbaston,
Birmingham, UK
Poster 32. Behaviour In Primary School Age Children With A 22q11 Deletion
Swillen1, K. Devriendt1, P. Ghesquière2 & J.P. Fryns1
1Centre for Human Genetics, Department of Clinical Genetics,
University Hospital Gasthuisberg, Leuven (Belgium)
2Department of Educational Sciences, University of Leuven, Leuven
Poster 33. Sign Language Tics In A Deaf Man With Tourette's Syndrome
Alice J Thacker, H. Morris, AJ Lees.
Psychiatry of Disability, St.George's Hospital Medical School, London, UK
Poster 34. Autistic Behaviour In 20 Young Males Affected By Fragile X Syndrome
Massimo Tondi, G Serra, L Demelas, S Festa, C Mastropaolo.
Institute of Child Neuropsychiatry, University of Sassari, Italy
Poster 35. Limited Retention Of Hand Use In A Rett Syndrome Variant - Implications For Partial Preservation Of A Specialized Neural Network

Richard Umansky , J Watson, K Painter, K Hoffbuhr, J Devaney
and E. Hoffman. Regent Street, Oakland, California, USA.
Poster 36. Structural And Functional Brain Abnormalities Associated With Deletions At 22q11.
Theresa van Amelsvoort, E Daly, H Critchley, D Robertson , J
Henry, M Owen, K Murphy, D Murphy.
Department of Psychological Medicine, Institute of Psychiatry, De
Crespigny Park, London, UK.
Poster 37. Mirror Movements In X-Linked Kallmann Syndrome: A Neurophysiological Study
Annapia Verri ,E. Alfonsi*,C. Uggetti, P. Maraschio**, A. Moglia*
Neurological Institute C. Mondino,Pavia; * Center of Clinical
Neurophysiology ,University of Pavia; ** Institute of Biology and
Medical Genetics,University of Pavia, Italy
Poster 38. Enuresis And Functional Urinary Incontinence In Children - An Overview
Alexander von Gontard; Department of Child Psychiatry, University of
Cologne, Koln, Germany
Poster 39. Psychological Well-Being In Women With Turner Syndrome
Ulla Wide Boman 1, I. Bryman2, C. Hanson2 and A. Möller2
1Department of Psychology, Göteborg University, Göteborg,
Sweden; 2Department of Obstetrics and Gynecology, Göteborg
University, Göteborg, Sweden
Poster 40. Intelligence And Emotional Profile In Children And Adolescents With The Childhood Type Of Myotonic Dystrophy.
D. Willekens1, J. Steyaert1, C. de Die-Smulders2, N. Goemans3,
E. Legius1, J.P. Fryns1
1Centre of Human Genetics, Leuven, Belgium; 2 Department of
Clinical Genetics, Maastricht, Netherlands; 3 Department of
Pediatric Neurology, Leuven, Belgium
Poster 41. Mecp2 Mutations In 6 Girls With Preserved Speech Variant Of Rett Syndrome
Michele Zappella1 and Alessandra Renieri2
1Department of Child Neuropsychiatry, Azienda Ospedaliera,
Siena, Italy; 2Medical Genetics, Department of Molecular
Biology, University of Siena, Italy
Poster 42. Psychometric & Behavioural Assessment of two Cases of 22q11 Deletion Presenting with Learning Disability and Schizophrenia.
Kelly, T.M.; Wilson, T.T.; Donnelly, C.E.; Collins, M.S.R.; and Hughes, D.M.
Muckamore Abbey Hospital, North and West Belfast Health and Social Services
Trust, Antrim, UK

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