11/217. Paroxysmal tonic upgaze: physiopathological considerations in three additional cases. Paroxysmal tonic upgaze of childhood has been described as a benign distinctive syndrome of abnormal ocular movement, with or without concomitant ataxia. After the first observation of four children, a further 29 patients have been reported with a wide spectrum of neurologic abnormalities such as ataxia, unsteady of gait, learning disabilities and mental retardation at follow-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recently it has been suggested that paroxysmal tonic upgaze could be a heterogeneous syndrome, ranging from a simply age-dependent manifestation to a clinical appearance of a variety of disorders affecting the corticomesencephalic loop of vertical eye movement. Moreover, it also could be an early sign of more widespread neurologic dysfunction. We describe three patients who presented paroxysmal tonic upgaze; in one, ataxia was present; in the second child, ataxia and language disorder also were observed; and in the third patient paroxysmal tonic upgaze was associated with loss of muscle tone (drop-attack-like events). On magnetic resonance imaging, a pinealoma compressing the dorsal mesencephalic region was detected. On the basis of our observations, we suggest that any insult with periaqueductal mesencephalic gray-matter involvement could be considered the basic condition for this peculiar clinical manifestation. ( info) |
12/217. Facilitated communication: rejected in science, accepted in court-a case study and analysis of the use of FC evidence under Frye and Daubert. This article traces the phenomenon of facilitated communication (FC) from its introduction to the united states in 1990 to its use in recent court proceedings. FC is an alleged breakthrough technique that enables nonverbal individuals with developmental disabilities to communicate via a form of assisted typing. Widespread use of FC resulted in miraculous communications and surprising allegations of abuse. The growing importance and notoriety of FC attracted the interest of the scientific community which rejected the technique after numerous controlled studies were undertaken. Despite the rejection of FC by the scientific community, however, some courts have accepted this unproven technique by evading their state's test of scientific admissibility. It is asserted that court decisions admitting FC evidence are pretextural, and it is argued that FC should not be admitted into court proceedings. In addition, this report analyzes the future of FC in those states that have adopted the newer Daubert standard for scientific evidence. ( info) |
13/217. Central auditory processing disorders and reduced motivation: three case studies. The central auditory test results for three normal-hearing children who were initially diagnosed as having a central auditory processing disorder and learning disability are presented. They were referred to the authors for second-opinion consultations. Central auditory processing retesting was performed by the authors under the condition of no reinforcement and then the condition of reinforcement with the child's favorite food, hobby, or toy. For all three cases, the central auditory test scores improved markedly bilaterally under the condition of reinforcement as compared with the condition of no reinforcement. We hypothesize that the improvement was related to increased motivation associated with the reinforcement and that these children represented false-positive results on the central auditory test battery. Large-sample studies are needed to investigate the effect of reinforcement on test performance in children with reduced central auditory test scores. ( info) |
14/217. Assessment of a response bias for aggression over functionally equivalent appropriate behavior. We evaluated the effects of a dense (fixed-ratio 1) schedule of reinforcement for an 11-year-old boy's mands for toys while aggression produced the same toys on various schedules chosen on the basis of a progressive-ratio probe. Based on the probe session data, we accurately predicted that aggression would be more probable than mands when the schedules were equal or slightly discrepant, but that mands would be more probable when the schedule discrepancy was large. ( info) |
15/217. language development and assessment in children with human immunodeficiency virus: 3 to 6 years. Young children infected or exposed, or both to the human immunodeficiency virus (hiv) present with a variety of speech, language, and communication problems. The purpose of this article is to provide an overview of the impact that hiv has on young children from 3 to 6 years of age. Issues concerning medically related problems are discussed, along with assessment criteria and descriptions of communication disorders among hiv-infected and -exposed children. ( info) |
| A longitudinal study of a left hemispherectomized boy (AB) was conducted to document linguistic evolution and maturation and determine the extent to which right hemisphere processes allow development of language. Resection of the left hemisphere occurred at age 5 years 6 months, following intractable epilepsy. Tests of language comprehension (pointing, understanding of prepositions, understanding of narratives) and production (naming, repetition, lexical diversity, grammatical production) were administered at ages 6:2, 6:4, 6:6, and 6 years 9 months. Observations showed little progress, if any, in most aspects of linguistic performance. In contrast to studies with left-hemispherectomized children, AB showed only a modest expansion of the semantic lexicon and the phonological repertoire more than a year after the surgical intervention. These observations indirectly suggest (1) poor functional involvement of the right hemisphere in the development of adequate linguistic abilities, (2) the necessary integrity of the LH for adequate development of language, or (3) that variations in individual brain maturation rates may account for AB's linguistic progress. ( info) |
17/217. Three young children with smith-magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms. We report on the development and behaviour of three young children with smith-magenis syndrome (SMS), del 17p11.2. The behaviour problems and the psychomotor delay in preschool children with SMS are often more striking than the dysmorphic features and can serve as a useful clue to the diagnosis. We compare the behaviour with reported data. The behaviour problems in the three four year olds include very demanding behaviour, severe temper tantrums, hyperactivity, aggressive behaviour, self injurious behaviour, sleeping problems and stereotypic behaviour. head banging, hand, wrist or finger biting are present. Onychotyllomania is not observed. Insertion of objects in the mouth as well as excessive nose picking is very frequent, although polyembolokoilomania is not present. The so called self hug when excited is present in one child. The behaviour problems and psychomotor delay represent a major management problem for the parents. ( info) |
18/217. Lamotrigine-induced tic disorder: report of five pediatric cases. PURPOSE: To describe the clinical spectrum of lamotrigine (LTG)-induced tics (an uncommon side effect) in children. methods: Retrospective analysis of patients from our hospital-based practice who developed tics while on LTG. Data obtained from medical records, interviews with parents, video-EEGs, and homemade videotapes. RESULTS: Three males and two females (range, 2.5-12 years; mean, 6.9 years) developed a movement disorder within the first 10 months of therapy (maintenance doses, 4-17 mg/kg/day). Four patients exhibited simple motor tics; one patient experienced mostly vocal (i.e., gasping sounds) tics. Laryngoscopic evaluation of one 2.5-year-old with repetitive gasping sounds was normal. In three cases, tics resolved completely within 1 month of drug cessation; tics recurred in two of these patients after reintroduction of LTG. A fourth patient experienced gradual improvement after stopping LTG over 4 months; the fifth patient's simple motor tics improved spontaneously with a reduction in medication. None of the patients had clinical features of a neurodegenerative disorder, and none met diagnostic criteria for tourette syndrome. Two patients, however, had a diagnosis of acquired epileptic aphasia syndrome, and one patient had nonprogressive expressive and receptive language dysfunction. A fourth patient had global static encephalopathy, and the fifth patient had only attentional problems. In all patients, tics were not associated with ictal EEG changes. CONCLUSIONS: LTG may infrequently induce simple motor tics, vocal tics, or both. patients with severe language dysfunction may be particularly susceptible to this uncommon side effect. Further studies are necessary to clarify the population at risk. ( info) |
19/217. Central auditory processing disorder as the presenting manifestation of subtle brain pathology. The objective of this case-report study was to assess the presence of central auditory impairment in a patient with a normal neurological examination. This subject was a 45-year-old female with gradually deteriorating hearing difficulties over a period of 5 years and a borderline normal audiogram. Behavioural central auditory tests were used, including Dichotic Sentence Identification Test, Competing Sentences Test, and auditory event-related potentials (mismatch negativity). Behavioural central auditory tests and mismatch negativity results were abnormal and indicated disordered central auditory processing. Subsequent magnetic resonance imaging of the brain identified subtle changes consistent with small-vessel ischaemic disease. adult patients who present with hearing difficulties that cannot be explained on the basis of their audiogram should undergo central auditory assessment, as the auditory symptoms may be the first and only manifestation of central nervous system pathology. ( info) |
20/217. A two-year-old boy with language regression and unusual social interactions. CASE: Jimmy, a 2 1/2-year-old boy, was seen for the first time by a new pediatrician after a recent family move. His mother made the appointment for a health supervision visit although she had concerns about his language and social skills. She stated that he spoke primarily with unintelligible sounds and often communicated by pointing with his finger. He spoke only 10 words that were clear enough to be understood. Jimmy's mother said that he could hear, but she was not sure whether he understood everything she said. Although he played at home with his 4-year-old brother, he typically played by himself when he was in the presence of other children. Jimmy's mother was asked if he had had a 2-year-old visit to a pediatrician and what the assessment was at that time. She said that his delayed development was discussed with the pediatrician, but she was reassured that he would progress during the following year. An uncomplicated full-term gestation was followed by a vaginal delivery without perinatal problems. Jimmy was a "calm" baby who was breastfed for the first 6 months of life. He sat at 7 months, pulled himself up to stand with support at approximately 9 months, and walked at 13 months. Transitions were always difficult for Jimmy; he screamed and was difficult to settle whenever cared for by someone other than his parents. He typically resists physical contact when children or adults approach him. His mother recalled that language emerged early. He acquired a significant number of words between 12 and 15 months of age. Jimmy apparently recognized letters when his parents were teaching the older sibling. At 15 months, Jimmy's language output regressed dramatically, and by 18 months, he no longer used words to communicate. Since then, he has spoken fewer than 10 single words. He mostly babbles and uses repetitions of the same sounds. The pediatrician inquired into family structure and life events at the time Jimmy lost language milestones. He was told that, at this time, the father, an engineer, changed his position in the company and began to travel extensively. Jimmy's mother thought that the absence of his father might be related to the language regression. She also noted that Jimmy seemed to have a stronger attachment for his father: "Jimmy has always been attracted to his father, and his brother seems to prefer me." The parents' marriage was strong and free of any major disharmony. During the interview, the pediatrician noted that Jimmy played persistently with his set of small trains, repetitiously lining them up in order. He was not interested in other toys that were on the floor next to him. He ran around the trains, mostly on his toes, while making unintelligible sounds. He looked away when the pediatrician called his name and became agitated when his mother attempted to redirect his attention to the examination. The pediatrician, 4 years in practice after his residency, had never seen a child with Jimmy's pattern of development. That Jimmy's development was unusual in two domains was apparent to his pediatrician from the preceding information and brief observations. He asked himself what the next steps should be. ( info) |