The Psychiatric, psychological and Behavioural functioning of a Boy with terminal Deletion of the Long Arm of Chromosome 10

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RESUME Elevation roniqiie paroxysmiqiie benigne du rqgard vers le haul avec araxie: un syndrome neuro- ophtalmologique dorigine /amiliale? Un nouveau syndrome neuro-ophtalmologique a ete decrit recemment, consistant en deviations des yeux vers le haut, toniques et paroxystiques, avec ataxie. Les episodes surviennent le jour et sont disparaisent avec le sommeil suspendus par Ienfance. Le debut se fait habituellement avant un an et les s y r n p t h e s disparaissent progressivement a ILge adulte. Yrois nouveaux cas sont decrites chez qui on retrouve constarnrnent un mode de transmission autosomal dominant, ainsi quune rnaladresse et un retard dans ICge de la marche. Le traiternent par L.Dopa fut nettement benefique. ZUSAMMENFASSUNG Benigne paroxysmale ronische Blickrichriing nacti oben tn i t A rasie im Kindesolrer: ein neuro- optrlhalmologisches Syndrom mir familiurer Ursuche? Ein neues neuro-ophthalmologisches Syndrorn wurde kurzlich beschrieben, es besteht aus paroxysrnaler tonischer Abweichung der Augen nach oben rnit Ataxie. Die Episoden treten taglich auf und verschwinden im Schlaf. Der Beginn ist gewohnlich irn ersten Lebensjahr und die Symptome verschwinden allmahlich irn Kindheit. Bei den bescriebenen drei neuen Patienten fand sich ein autosomal dominanter Erbrnodus, sie waren unbeholfen und lernten erst spat frei laufen. Die Behandlung mit L-Dopa zeigte eine gute Wirkung. RESUMEN Desviacion tonica paroxisrica de 10s ojos hacia arriba con alaxia en la infancia. i Un sindrome neuro-oftalmologico benign0 de origen familiar? Recienternente se ha descrito un sindrorne neuro-oftalrnologico de la infancia consistente en la desviacion paroxistica de 10s ojos hacia arriba acornpanado de ataxia. Los episodios ocurren diariarnenre y se alivian siernpre con el sueilo. El debut tiene lugar generalrnente antes del aflo de vida y 10s sintomas desaparecen gradualrnente con la edad. Los autores describen tres nuevos pacientes en 10s que era constante un tip0 de herencia autosomico dominante, junto con un retardo en la adquisicion de la rnarcha y torpeza motriz. El tratamiento con levodopa produjo una Clara rnejoria. References tonic upward gaze. Pedialric Neurology, 8, Ahn, J . C . . Hoyt. W. F., Hoyt, C. S. (1989) Tonic 154-155. upgaze in infancy. Archives of Ophrhalrnology, Nygaard, T. C., Marsden, D., Fahn, S. (1991) 107, 51-58. Dopa-responsive dystonia: long-term treatment Deonna, Th., Roulet, E., Meyer, H. U. (1990) response and prognosis. Neurology, 41, 174-181. Benign paroxysmal tonic upgaze of childhood. A Owner, R. A., Billson, F. (1988j Benign paroxysmal new syndrome. Neuropediurrrcs, 21, 2 13-2 14. ronic upgaze of childhood. Journal o j Child Echenne, B., Rivier, F. (1992) Benign paroxysmal Neurology, 3, 177-180. T he Psyc h i CI t r i c , Psycholog ica I and Behavioural Functioning of a Boy with Terminal Deletion of the LonQ Arm of Chr6mosome 10 Jeremy Turk Deborah Christie Joanna Sales Robert Surtees Deletion of the long arm of chromosome 10 is a rare condition: only 18 cases have been reported since its original description by Lewandowski et a/. in 1978. The chromosomal anomaly can vary. Terminal deletion of both long and short arms with ring formation is the most common form, although terminal deletion of the long arm and interstitial deletions also occur. Physical features associated with the disorder are extremely variable in nature and prevalence (Table I). Commonly associated physical anomalies, occurring in at leas one-third of reported cases, include preterm birth, respiratory distress, growth retardation, microcephaly, strabismus, malformed ears which may be low-set or rotated, congenital heart disease and anogenital anomalies. However, even the most common physical abnormality- malformed ears-has been reported in 439 'A .d t j 3 s V 440 TABLE I Physical and neurological findings in reported cases of deletion of the long arm of chromosome 10 b ' ,. 1 .-I B C D E F G Age (yrsVgender Nature of deletion Preierm birth Respiratory distress Grovdh retardation hlicrocephaly Brachycephaly Long triangular l i m e s Ejebrows abseni laterall) Scant l o w eyelashes Sirabismus E)er deeply set Palpcbral fissures Upward slanting Downward slmting Horizontal Long ard narrow Shon Epicanthic folds H ypertclorism Nasal bndge prominent Nose small, narcs rntevcrted Ears hlalformed Low-set Rotated Large Long philtrum Dcntal/palatal anomalics Cupid.bow upper lip Mandibular anomalies Widely spaced nipples Shon nech Hand and foot defects Congerutal heart disease Flexion contractures Syndactyl y Clinodact yly Pcs planus Dislowtable hips Anogenital anomalies Central nervous system anomalies Cognitive/developmental aspects Eehavioural aspects 4/F lCq2Ster + + + + + + + + - + - + + + - + + + - + A. - + t + - + - + - IQ = 26 (Cattell) - I I / F NeonateIF Neonate/hl IOq26ter ICq25ter + t - + - Severe mental retardation Affectionatc but restless and cvtn a plated-covered with scratches IOqZSter + + + t 1 , 3 / M 5 mths/M ICq26tcr IOq26tcr - - - t + t t - + - + - - - t t + - - + + - - Mental Psychomotor retardation development globally delayed - TABLE I (continued) B- i H I J E; Age (yrs)/gender Nature of dcletion 10 months/f IOq23ier Prererm birth Respiratory distrcsr Growth retardwon hlicrocephrl y Brachycephaly Long trrangular f3cic1 Fyebrour abreni Irtcrally Scant lower c)cl~thes Sir~bismus Eycs deeply rei Palpebral fissurcr Upward slaniing Downuard slaming Horizontal Long and narrow Short Epiianihic fold, Hypcrtelorism Nasal bridge prominent Nore small. nares antevericd Ears hlalformed Low-set Rotated Large Long philtriim Dcntal/palatal momalizi Cupid-bow upper lip Mandibular snomalies Widely spaced nipples Short neck Hand and fooi dcfcctr Congenital hean direare Flexion contrsciures Syndactyly Clinodaci y lv Pes planus Dislocatable hips Anogeniial anomalies Central nervous system anomalies Renal anomalies Cognitive/developmental arpecis Behavioural specis + - Severe menial rciardaiion NeonxeiF 1042hter 2 mrh>/F ?8/F IOq26.lter (duplicrrion Sq24 .3 ) + + + - - + - Obvious dsvelopmental delay - Some developmental delay .. tieonatr/F IOq25.2icr t + - - Sewe developmental delay NeonareiF lOq2S or 26tcr + t + + + + + - + - + + - + T - . - m 7 7 - m 7 n m a Q' 2 2 44 1 v) L - 0 z 3 x G 442 TABLE I (continued) Age lyrs)/gender Nature of dcletion Prcterm binh Respirators distres Growlh retardation Mtcrocephaly Brichyccphaly l o n g triangular facies Eyebrous abrent lalerally S i m lowcr eyelashes Strabismus Eyes deeply set Palpebral fissures U p w r d s l ~ n ~ i n g Downward rlantins Hortzont.4 Long and narrow Shon Eprianthis folds Hypenclorim Nasal bridge promincnr Nose rma\l. nares anteberled Ears hlalformcd Lou.set Rotared Large Long philtrum DentaVpalatal anomahe5 Cupid.bow upper lip Mandibular anomalics Widely spaced nipples Shon neck Hand and foot defects Congenital hean disease Flcaion conrraclures Syndact yly Clinodact yly Per planuc Dislocatable hips Anogenilal anomalies Central nervous sbstem anomalies Cognili~e/derelopmenlal aspects Bchrvioural aspects 7/M 3 / hl invl)plq? I mat 1Oq25.3tet tOq?!.3 or ?6.lrer + + - + + - - + - Moderate mental retardation. speech delay. best on visuo- motor tells Hyperkinesir. aggressive. lirniled attenlion span. diminished need for slecp. often deliberately provocative and destructive. prone to spit when thwarted or rcprimmded, could dso be very affectionate + + + + + - - + + + + + + + + + + + - - - NconarcIF NeonateCF IOq?6 . l i e i + + Severe developmental delay 1*?6ier + + + + + - + - - + + + - + + - NeonateIF 7/M --z 18 months IOq?6. lter IOq3.2ler t + + + + + + + + - + + + + Psychomotor development mildly delayed - - + + + c See man l C X l &&.. - 1 A = Lewandowski el al. 1978; B = Turleau et a!. 1979; C = Wagner era/. 1981; D = Mulcahy er a/. 1982: E = Taysi el at. 1982; F = Zatterale er a/. 1983; G = Evans-Jones el at. 1983; H = Chieri and lolster 1983; I = Shapiro el a/. 1985; J = Curtis el a/. 1986; K = Vanlieferinghen el a/. 1987; L = Mehta el a/. 1987; M = Wulfsberg el a/. 1989; N =Gorinati el a/. 1989; O= present study. *Three other patients described had interstitial or ring deletions. **Two first-cousins with same chromosomal anomaly were described as developmentally delayed and hyperactive. only 10 of the 18 individuals on record; thus associated physical features are not pathognomic of the condition. None is essential for the diagnosis to be made, and all occur in other genetic disorders as well as in the general population. Of equal, if not greater, interest are accounts of associated cognitive-develop- mental and behavioural features. 12 reports have commented on develop- mental level, always describing sub- stantial intellectual impairment, and almost all these observations have been anecdotal, with failure to mention any systematic, standardised cognitive evalu- ation. IQ estimates have been reported only twice: values of 26 (Lewandowski et al. 1978) and 18 (Shapiro et al. 1985), suggesting severe learning disabilities. Three papers have described behavioural disturbance (Turleau ef af. 1979, Shapiro et al. 1985, Mehta el al. 1987). Despite differences in descriptive labels applied and the anecdotal nature of the reports, a common theme emerges of agitation, restlessness and hyperactive tendencies. No attempts have been made to date to evaluate the behaviour of children with deletion of the long arm of chromosome 10 using reliable, standardised behavioural inventories. Research has demonstrated the usefulness of this approach in clari- fying characteristic behavioural profiles attributable to underlying genetic anom- alies in a variety of conditions in which the physical features may be variable; for example tuberous sclerosis (Hunt and Dennis 1987), fragile x syndrome (Turk 1992), Schwachman syndrome (Kent et al. 1990) and Williams syndrome (Udwin el al. 1987). A large number of rating schedules exist which have been used successfully in the study of possible behavioural phenotypes (OBrien 1992). We describe a boy with deletion of the long arm of chromosome 10 who pre- sented with developmental delay, marked hyperactivity and associated behavioural problems. Thorough developmental and behavioural evaluation clarified the nature of his disturbances and allowed for adaptations to, and improvements in, his complex rehabilitation programme. Case report A.M. was born to unrelated middle-aged parents by elective caesarean section at 38 weeks gestation following persistent vaginal bleeding with clots that had failed to respond to hospital admission and bed- rest. An enlarged fetal kidney had been demon- strated on ultrasound scan. At delivery, A.M. was noted to have a squashed head, although there was no mention of microcephaly or brachycephaly. There were no neonatal problems. Bottle-feeding was introduced because of poor breast-feeding. with failure to gain weight satisfactorily. Early develop- mental milestones were unremarkable, apart from some difficulty in picking up toy bricks and gross motor delay. However. he was noted to be very active from an early age and failed to develop the usual fear of strangers towards the end of his first year. All vaccinations were received, wirh no adverse reactions. A.M. commenced play-school at three years. Within a year he was described as disruptive and unstructured in his play. Subsequently he w-as noted to be left-handed and -footed, and to have delayed development of reading and writing skills. Numerous hospital admissions and visits were required duri,ng the first years of life for renal-tract investigations and surgery. Congenital dislocation of the hip required splinting for about a year. He also had several eye operations for srrabismus. Physiotherapy was provided up to the age of two years three months for gross motor delay. A.M. received speech therapy until 4V: years of age. at which time his speech and language were felt to be appropriate for age. Poor concentration with markedly impulsive behaviour, restlessness, fidgetiness and clumsiness continued. This culminated in referral, a t six years 10 months, to the developmental neuropsychiatry team at the Hospitals for Sick Children. Presenting behavioural features were reported by parents as being continuous and independent of time, setting and company. He was also reported as being indiscriminately affectionate towards others. Socially he was able to relate warmly and to be polite. His parents had noted that from an early age A.M. reacted to the ingestion of red dyes with facial oedema, requiring oral antihistamines. Fruit squashes and brightly coloured sweets also seemed to exacerbate his overactivity. A variety of behavioural approaches had been tried, with few long-term benefits. These included positive reinforcement, extinction programmes-in which problematic behaviours were systematically ignored-and punishment. Methylphenidate (2.5mg b.d.) had worsened his hyperactivity, so had been discontinued. Placement at a special school for children with emotional , and behavioural disturbances had improved his academic skills and concentration-span a little, but he had started to mimic other childrens aggressive behaviours. Family history was unremarkable. Physical examination demonstrated dysmorphic ears and deeply set eyes, with strabismus and epicanthic folds, although palpebral fissures were unremarkable. Lower eyelashes were scant. A cupid- bow upper lip was noted, 3s was clinodactyly, slight generalised joint laxity and flat feet. Head circumference, weight and height were all within normal parameters. 03 7 P - m 7 v1 m 443 v) d 6 n B TABLE I 1 Scaled scores for WPPSI subtests Subresi Score I - i Performance Object assembly Geometric design Mazes Picture completion Verbal Information Comprehension Arithmetic Vocabulary Sentences 444 A clinical -diagnosis of DSM-III:R attention deficit hyperactivity disorder was made on the basis of his pervasive overactivity, poor concentration, restlessness and fidgetiness (American Psychiatric Association 1987). Generic studies Chromosomal analysis was undertaken due to A.M.'S multiple medical problems and dysmorphic features. An unbalanced translocation was identi- fied, in which the distal fragment of the long arm of chromosome 10 had been replaced by a segment of unknown origin, producing monosomy for part of IOq and trisomy for an unidentified chromosomal segment-break point at IOq25.2. No fragile sites a t Xq27.3 were identified in 60 cells analysed using folate-deficient medium. DNA probing revealed no evidence that A.M. might have fragile X syndrome in addition to the chromosome 10 deletion. Using OX1.9 with Hind 111, he had a normal 5 . 1 kb band, and there was no evidence that 11, was affected. Parental chromosome analysis revealed no abnormality. Psychological assessmenr WECHSLER PRESCHOOL AND PRIMARY SCALE OF INTELLIGENCE (WECHSLER 1390) Table 11 shows the scaled scores for the four performance and five verbal subtests that A.M. completed. There was no difference between the Performance and Verbal IQ; however, individual subtests showed considerable variability. Four subtests from the performance scale were administered: A.M. experienced particular difficulty with the two for which he had to use a pencil (geometric design, mazes). The overall Performance IQ (pro-rated) was 52; his Verbal IQ was 62. A.M.'S performance on the vocabulary subtest was significantly better than on the other verbal subtests. HISKEY NEBRASKA TEST OF LEARNING APTITUDE (BEAD PATTERN SUBTEST) (HISKEY 1966) A.M. was asked to copy the examiner threading wooden beads on to a lace. H e was very keen and began with little encouragement, but was only able to thread five beads within the one-minute' time- limit, corresponding to an age-equivalent per- formance of 3 years 6 months. A.M. found i t hard to pick up and manipulate the beads onto the thread. His poor performance reflected a fine motor impairment,. rather than impulsiveness, and the result was consistent with that for the geometric design and mazes subtests, 'which also indicated specific difficulties with fine motor skills. BRITlSH PICTURE VOCABULARY SCALE (DUNN ei 01. 1982) Receptive vocabulary gave a scaled score of 81 (67 per cent, confidence interval 77 to 91). This is in the moderately low to low-average ability range and is consistent with A.hl.'s performance on the WPPSI vocabulary subtest. I t was concluded from the psychological assess- ments that A.M. was functioning in the low range intellectually. Particular difficulties were evident with fine motor ability and visuomotor co- ordination. However, his concenuation difficulties and variable co-operation made it difficult to establish how accurate a measure of his true ability the obtained scores were. PARENTAL ACCOUNT OF CHILDHOOD SYMPTOMS' The Parental Account of Childhood Symptoms is a semi-structured questionnaire which elicits in- formation on development and behaviour. Parental descriptions of behaviour in the previous week and year are obtained and rated by the interviewer. There are two scales of externalising behavioural disturbance: hyperactivity (inattentive restless behaviour on task-centred activities and in structured situations) and defiance (non- compliance, tantrums, antisocial behaviour). Both scales have been shown to have satisfactory internal consistency and inter-rater reliability (Taylor er ol. 1986). A.M. had significantly elevated scores for attention span, restlessness, fidgetiness and activity levels across a range of situations which persisted over time, consistent with a diagnosis of DSM-Ill-R attention deficit hyperactivity disorder. SCHEDULE O F HANDICAPS, BEHAVIOUR AND SKILLS (WING 1980) The Schedule of Handicaps, Behaviour and Skills is a semi-structured interview completed by researcher and parents. I t describes the level of functioning and present behaviour. Items divide into those indicating developmental stage reached (e.g. use of language, ability t o walk, dress and feed), and those con- cerning abnormal or difficult behaviour (e.g. sleep disturbance, echolalia, stereotyped movements and physical aggression). The Vineland Scale of Social Maturity can be completed from the information obtained. Discrete diagnoses of DSM-111-R typical autism and pervasive developmental disorder can be made using the accompanying Autistic Disorders Diagnostic Checklist. I t is also possible to derive a graphed profile of skills and impairments, enabling *For further information, contact Dr. E. Taylor, Institute of Psychiatry, De Crespigny Park, London. comparison of functioning across different arcas (motor, self-care, language, non.verba1 communi- cation, school work, imaginary and social skills, practical abilities). Results showed A.M. to have a Social age of 4 years 2 months, with a derived Vinetand develop- mental quotient of 61. He fulfilled criteria for DSM-Ill-R pervasive developmental disorder- other. In particular, A.M. exhibited abnormalities in seeking comfort. had impaired ability to make friends and had speech anomalies in the form of immediate and delayed echolalia, repetitive speech and muddling of phrases. The profile of skills and impairments confirmed that A.M. had special needs, particularly in the area of pracrical abilities (Fig. I ) . Praclrcsl 7 1 I r nqna l l on Social Discussion A.M. displayed certain physical attributes in common with other reported individuals with the same chromosomal abnormality: preterm birth, strabismus, malformed ears, clinodactyly and anogenital anomalies. He lacked othci commonly reported features (respiratory distress, growth retardation, microcephaly, hyper- telorism, prominent nasal bridge, low-set rotated ears, congenital heart disease), while having others previously found only rarely (eyebrows absent laterally, scant lower eyelashes, epicanthic folds, cupid- bow upper lip). In contrast, structured evaluation of A.M.S development and psychological functioning confirmed developmental delay consistent with previous descriptions of children with chromosome 10q deletions. However, A.M.S delay was somewhat milder than earlier case reports with documented developmental quo- tients, suggesting that the degree of retardation can be quite variable and does not always consist of severe intellectual impairment. Other areas of dysfunction for A.M. have not been noted to date in association with deletions of the long arm of chromo- some 10. A.M. had delayed and distorted speech and language development. Speech showed multiple anomalies comprising immediate and delayed echolalia, repetitiveness and muddling of phrases. Some aspects of non-verbal communi- cation skills were found to be primitive. Social functioning was also abnormal in that language was frequently not used for communication; in addition, there was difficulty in making friends and z 3 I QI z x u 446 qualify for a diagnostic label of typical autism. While fragile x syndrome is associated with typical autism in a small number of cases, it is more often associated with a combination of social anxiety, sensory defensiveness (including aversion to eye-contact), delayed imitative and symbolic play and stereotypic behaviour, including hand-flapping, hand-biting and insistence on routine (Cohen et al. 1991). A.M.S profile of social functioning differs from the above in that he lacks social anxiety and sensory defensiveness, and has good eye-contact and no stereotypic behaviour, but has abnormalities in seeking comfort and difficulty in making friends. This reflects the tendency for different genetic abnormalities to predispose to different profiles of social dysfunction. Thus it is more profitable to ask What is it about a group of children that reminds us of autism? rather than Does a group of children have autism or not?. Language form and content can also characterise biological syndromes. Fragile x children often present with rapid, perseverative, dysrhythmic, echolalic chatter with up and down swings of pitch (Hanson et al. 1986). This delayed, deviant, repetitive language is distinct from that of indivi,duals with Down syndrome or autism, suggesting that it is not due either to level of adaptive functioning or to autistic-like behaviour (Sudhalter ef al. 1990). Verbal persever- ation is thought to be due to word-retrieval problems and/or stalling behaviour while processing an utterance or searching for a word. Self-repetition shown by fragile x individuals may be assisting conversation pace and flow, confirming and main- taining conversational topic, and mini- mising demands on expressive language abilities (Ferrier et al. 1991). This is con- sistent with fragile x individuals having greater understanding of conversational conventions than autistic people. Language is also abnormal in Williams syndrome, in which there is often a superficial cocktail party-like chatter, associated with hyperacusis (Udwin et al. 1987). Other conditions, for example Angelman syndrome, may cause excep- tionally delayed speech and language skills {Sales and Turk 1991). A.M.S language pattern differed from all of the above. Although he demowraitxi echolalia, repetitive speech and muddled phrases similar to the speech of individuals with fragile s syndrome, he lacked the jocular, Manic-like, cluttered phraseology. Furthermore, speech content and its usage for communication were appropriate, apart from occasional tangential comments. A.M. demonstrated pronounced, per- vasive hyperactivity. Such attentional deficits are also claimed to have specific associations with certain genetic dis- orders, including tuberous sclerosis (Hunt and Dennis 1987), fragile s syndrome (Hagerman 1987), subgroups of children with Down syndrome (Green et al. 1989) and Sanfillipo syndrome (Bax 1990). A.M. continues to experience attention deficit hyperactivity disorder, which is difficult to explain in terms of his social environ- ment and learning difficulties. Whether this again represents a specific association awaits scientific documentation of further children with this genetic anomaly; it is certainly consistent with earlier anecdotal reports. Conclusion This case description emphasises the importance of a comprehensive scientific evaluation of development and behaviour in children with chromosomal anomalies underlying their learning disabilities. Clinical impressions can be tested, and subtle-yet important-features elicited . which might otherwise be missed. There is a need to consider all aspects of psycho- logical functioning in such children in a structured, methodical fashion. Speech and language, attentional skills and social abilities, as well as the severity and profile of intellectual impairment, must be evaluated with the aid of esiablished standardised instruments. This approach is also of importance in extending our knowledge of the develop- mental and psychological consequences of chromosomal anomalies and mediating neuropsychological dysfunction. Clinically it is crucial for the preparation of comprehensive remedial programmes based on each individuals strengths and needs. It would be of value for other children identified with this chromosomal Authors' Appointments 'Jeremy Turk, M.B., B.S.. B.Sc.(Hons.), D.C.H.. to undergo the Same assessment M.R.C.Psych., Wellcome Research Fellow and battery in order to explore further the Clinical Lecturer in Child Psychiatry, Behavioural possibility of a psychiatric, psychological Sciences Unit, institute of Child Health, London WCI 1EH. Deborah Christie, B.Sc., Ph.D., Research and behavioural phenotype. Accepted for pirblication 20th October 1992. Psychologist; Joanna Sales, M.B.. B.S., M.R.C.Psych.. Senior A ckno wiedgements Registrar in Child Psychiatry; The aUth@TS are grateful to DT. Robin Winter of the Department of Psychological Medicine, Hospitals Clinical Research Centre, Northwick Park Hospital, for Sick Children, Great Ormond Street. London for genetic analyses undertaken as part of A.M.'S WClN 3JH. evaluation, and to Dr. Claire Sturge of Northwick Robert Surtees, M.R.C.P., Ph.D., Senior Lecturer Park Hospital for having referred A . M . and in Paediatric Neurology. Institute of Child Health, agreeing to preparation of the article. Dr. Turk is London WClN IEH. funded by a Wellcome Research Training fellow- ship. Dr. Christie is funded by the Leukaemia Research Fund. SUMMARY The developmental and behavioural functioning of a six-year-old boy with deletion of the long arm of chromosome 10 was evaluated using reliable, standardised, psychological inventories. The information obtained clarified his complex pattern of strengths and needs; it also contributes scientifically derived data to the literature on behavioural correlates of this condition. L 'evaluation psychiatrique, psychologique et comportementale d 'un garcon porteirr d ' m e deletion terrninale du bras long du chromosome I0 Le developpement et le comportement d'un garcon de six ans presentant une deletion du bras long d u chromosome 10 ont ete evalues a I'aide d'inventaires psychologiques fideles et standardises. Les informations obtenues permirent de clarifier la distribution complexe de ses capacites e~ de ses besoins; cela fournit egalement a la litterature des donnees sur les consequences comportementales de cette conditon. 'Correspondence to first author. RESUME ZUSAMMENFASSUNG Psyche und Verhalten eines Jungen mil terminaler Deletion des langen Arms am Chromosom 10 Entwicklung und Verhalten eines sechs-jahrigen Jungen mit Deletion des langen Arms am Chromosom 10 wurden anhand von verlanlichen, standardisierten psychologischen Methoden beurteilt. Die gewonnenen Informationen zeigten deutlich sein komplexes Muster aus Kraft und Bedurfnis; aunerdem wird die Literatur durch wissenschaftlich erworbene Daten irber Verhaltensweisen bei dieser Erkrankung erweitert. RESUMEN Funcionamiento psiquiatrico, o psicologico y conductal en un muchacho con deleccion rerminal del brazo largo del crontosoma 10 Se evaluaron, usando invertarios fiables psicol6gicos estantarizados, el desarrollo y el funcionamienta conductal de un muchacho de seis aflos de edad con una deleccion del brazo largo del cromosoma 10. La informacion que se obtuvo esclarecio este complejo cuadro de potencias y necesidades. Tambien contribuye en derivar datos a la literatura sobre las correlaciones conductales de esta enfermedad. ' References American Psvchiatric Association (1987) DSM-III-R. Diagnostif and Statistical Manual of Mental Disorders, 3rd Edn.-Revised. Washington, DC: American Psychiatric Association. Bw, M. (1990) 'Behavioys seen in children with rnucopolysaccharidoses. In Behovioural Pheno- types Abstracts and Syndrome Information. Oxford: SSBP Publications. Chieri, P., lolster, N. (1983) 'Monosomy IOqter due to a balanced maternal translocation: T(108) (q23;p23).' Clinical Genetics, 24, 147-150. Cohen, 1. L., Sudhalter, V . , Pfadt, A., Jenkins, E. C.. Brown, W. T., Vietze, P. M. (1991) 'Why are autism and the fragile->( syndrome associated? Conceptual and methodological issues.' American Journal of Human Generics, 48, 195-202. Curtis, H., Howell, R. T., Cope, C. (1986) 'Terminal deletion of the long arm of chromosome 10.' Journal of Medical Genetics. 23,478480. Dunn, L. M., Dunn, L. tvi., Whitton, C., Pintilie, D. ( I 982) The British Picture Vocabulary Scale; Manual for the Short and Long Forms. Windsor: NFER-Nelson. Evans-Jones, G . , Walker, S., Howard, P. J. (1983) 'A further case of monosomy 10qter.' Clinical Generics, 24, 216-219. Ferrier, L. J.. Bashir, A. S., Meryash, D. L., Johnston, J., Wolff, P. (1991) 'Conversational skills of individuals with fragile->( syndrome: a comparison with autism and Down syndrome.' Developmental Medicine and Child Neurology, 33, 776-788. Gillberg, C., Forsell, C. (1984) 'Childhood psychosis ayd neurofibromatosis-more than a coincidence. Journal of Autism and Develop- mental Disorders, 14, 1-9. Gorinato, M., Zamboni, G., Padoni, N., Dodero, A., 447 Caufin. D., Memo, L. (1989) Terminal deletion of the long arm of chromosome 10: case report and review of the literature. Americun Journal OJ Medical Genetics, 33, 502-504. Gryn, J. hl., Dennis, J., Benners. L. A. (1989) Attention disorder in a group of young Down syndrome children. Journal of Mental Deficiency Research, 33, 105-122. Hackney, I . M., Hanley, W. B., Davison, W., Lindsao, L. (1968) Phenylketonuria: mental development, behavior and termination of the low phenylalanine diet. Journal of Pediatrics, 72. Hagerman, R. J . (1987) Fragile X syndrornc. Current Problems in Pediatrics, 17, 627-674. - (1991) Physical and behavioral phenotype. In Hagerman, R. J.. Silverman, A. C . (Eds.) Fragile X Syndrome: Diagnosis, Research and Treatment. Baltimore: Johns Hopkins University Press. Hanson, D. M., Jackson, A. W., Hagerman, R. J . (1986) Speech disturbances (cluttering) in mildly impaired males with the Martin-BelVfragile X syndrome. American Journal of Medical Genetics, 23, 195-206. Learning .-lpritude. Lincoln, NE: Union College Press. Hunt, A., Dennis, J. (1987) Psychiatric disorder among children with tuberous sclerosis. Developmental Medicine and Child Neurologv, 29, 190-198. Kent, A., Murphy, G . H., Milla, P. (1990) Psychological characteristics of children with Schwachman syndrome. Archives of Disease in Lewandowski, R. C . , Kukolich, M. K., Sears, J. W., Mankinen, C. B. (1978) Partial deletion IOq. Human Genetics, 42, 339-343. Mehta, L., Duckett, D. P., Young, 1. D. (1987) Behaviour disorder in monosomy IOqter. Journal o j Medical Genetics, 24, 185-187. Mulcahy, M. T., Pemberton, P. J., Thompson, E., Watson, M. (1982) Is there a monosomy IOqter syndrome? CIinicol Genetics, 21, 33-35. Nyhan. W. L. (1972) Behavioral phenotypes in organic genetic disease. Pediatric Research, 6, O h i e n , G. (1992) Behavioural plienotypy in developmental psychiatry. Measuring behavioural phenotypes-a guide to available schedules. European Child and Adolescent Psychiatry, 1 Reiss, A. L.< Feinstein, C., Rosenbaum, K. N., Borengasser-Caruso, M. A.. Goldsmith, B. (1985) Autism associated with the Williams syndrome. Journal of Pediatrics, 106, 241-249. Sales, J., Turk, J. (1991) Angelmans syndrome: is there a behavioural phenotype? Society for the 646-655. Hiskey, M . S . (1966) Hiske-v Nrbra.ska Test of Childhood, 65, 1349-1352. 1-9. (SUPPI. I ) , 1-61. Study o f Behaviourol Phenotypes, Annuol Scientijic Alee:@: A,!~:Kc:z. C)xfGid: SSBP. Shapiro, S. D., Hanson, K . L., Pasztor, L. M., Diliberti, J. H., Jorgenson, R. J., Young, R . S . . Moore, C . M. (1985) Delerions of the long arm of chromosome 10. American Journal of hledicol Generics. 20, 18 1 - 196. Sudhalter, V., Cohen, I . L., Silverman, W., Wolf- Schein, E. G. (1990) Conversational analysis of males w,ith fragile X, Down syndrome and autism: comparisqn of the emergence of deviant language. American Journal of Mental Retardation, 94, 431-611. Taylor, E., Schachar, R . , Thorley, G., Wieselberg, M. (1986) Conduct disorder and hyperactivity. I: Separation of hyperactivity and antisocial conduct in British child psychiatric patients. British Journal of Psychiatry, 149, 760-767. Taysi, K., Strauss, A. W.. Yang. V. , Padmalatha, C . , Marshall, R . E. (1982) Terminal deletion of the long arm of chromosome 10:q26-qter. Annales de Genetique, 25, 141-144. Turk, J . (1992) The fragile X syndrome: on the way to a behavioural phenotype. British Journal of Psychiutr-v, 160, 2 1 3 5 . Turleau, C . , de Grouchy, J., Ponsot, G., Bouygues, D. (1979) Monosomy IOqter. Hunian Genetics, Udwin, O., Yule, W., Martin, N. (1987) Cognirive abilities and behavioural characteristics of children with idiopathic infantile hyper- calcacmia. Journal of Child Psychology and Psvchiutr.v, 28, 297-309. Vanlieferinghen, P., Dechelotte, P. , Charbonne. F. (1987) Deletion particlle IOqter, une nouvelle observation. Annales de Genetique, 30, Wechsler, D. (1990) Wechsler Preschool and Primary Scale of Intelligetice-Re,~ised.. Manual. New York: Psychological Corporation/Harcourt Brace Jovanovich. Wegner, R.D., Kunze, J . , Paust, H. (1981) Monosomy IOqter due to a balanced familial translocation: 1(10;16)(q25.2;q24). Clinical Genetics, 19, 130- 133. Wing. L. (1980) The MRC Handicaps, Behaviour and Skills (HBS) Schedule. Acta Psychiatricu Scandinauica, 62 (Suppl. 285), 241-248. Wulfsberg, E. A., Weaver, R. P. , Cunniff, C. M.. Jones, M. C., Jones, K . L. (1989) Chromosome IOqter deletion syndrome: a review and report of three new cases. American Journal of Medical Genetics, 32, 364-367. Zatterale, A., Pagano, L., Fioretti, G., Caniglia, M., Festa, B.. Renda, S., Rinaldi, M. M.. Ventruto, V. (1983) Clinical features of monosomy IOqter. Annales de Genefique, 26, 106-10s. 47, 233-231. .. . 118-121. 448

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