bluuebunny/crossref_metadata_2025 huggingface dataset:
Video‐EEG in the diagnosis of paroxysmal events in children with mental retardation and in children with normal intelligence
Authors: Thirumalai Shanti , Abou‐Khalil Bassel , Fakhoury Toufic , Suresh Gautham
Published: July 2010

Video‐EEG monitoring was performed to evaluate 193 children (91 females, 102 males; mean age 9.6 years, SD 5.7) who presented with paroxysmal events of uncertain etiology. Diagnosis of the type of event, i.e. epileptic or non‐epileptic, was successfully established in 130 of 193 patients (67.3%). Seventy children (36%) had mental retardation (MR). Children with MR were more likely (p<0.05) than children without MR to have events during the studies. Children with and without MR had strikingly similar frequencies of epileptic and non‐epileptic events. In participants who had events recorded and characterized, epileptic seizures were identified in 67 children (51.5%), non‐epileptic events in 54 children (41.5%), and both epileptic and non‐epileptic events in nine children (7%). Improved diagnosis prompted appropriate management. This should encourage more frequent use of video‐EEG in children, especially in those with MR, to differentiate epilepsy from behavioral disturbances so that specific treatment can be provided.
Self‐injurious behaviour in young children with Lesch‐Nyhan syndrome
Authors: Hall Scott , Oliver Chris , Murphy Glyn
Published: July 2010

The early development of self‐injurious behaviour in three young boys (aged 17,25, and 30 months at start of study) with Lesch‐Nyhan syndrome was examined by means of parental interviews and by direct observations completed at 3 to 4 monthly intervals over an 18‐month period. Results suggest that the self‐injury began in a different way from that of other young children with autism and/or developmental disabilities in that, from the start, self‐injurious responses were sudden and violent, rather than emerging gradually over time. Drastic measures, such as removal of the teeth or provision of tooth guards, were often taken to prevent further tissue damage. Direct observations showed that the boys’self‐injury occurred at lower rates, but their carers were highly concerned about the behaviour. Sequential analysis of the observational data indicated that on some occasions the children were more likely to self‐injure during periods of low social interaction, suggesting that their self‐injury may have been influenced by environmental factors. The theoretical and practical implications of these findings are discussed.
Parent and teacher report of pragmatic aspects of communication: use of the Children's Communication Checklist in a clinical setting
Authors: Bishop D V M , Baird G
Published: July 2010

The Children's Communication Checklist (CCC) was developed to provide an objective assessment of pragmatic aspects of children's communication difficulties. We aimed to (1) see whether the checklist provided valid and reliable information when completed by parents, and (2) consider its usefulness in a clinical context. Checklists were completed by parents and a professional who knew the child well for all 5 to 17‐year‐old referrals to a tertiary developmental paediatrics centre over a 31‐month period. Children who were not yet speaking in sentences were excluded. From a sample of 151 children (81% male; mean age 8.7 years) with pervasive or specific developmental disorders, valid checklists were completed by 119 parents and 93 professionals. Reliability, as measured by internal consistency, was 0.7 or higher for most scales. Correlations between ratings for parents and professionals were in the range of 0.30 to 0.58 for individual pragmatic scales, with a correlation of 0.46 (n=82) for the pragmatic composite. For both parents and professionals, the pragmatic composite was lowest for children with a diagnosis of autism; intermediate for those with a diagnosis of Asperger syndrome, pervasive developmental disorder not otherwise specified or attention‐deficit‐hyperactivity disorder (ADHD); and highest for those with a diagnosis of specific learning disability. The strongest relation between the pragmatic composite and diagnosis was seen when ratings from parents and professionals were combined. Differences between diagnostic groups were not explicable in terms of age or verbal IQ.
Chronic posttraumatic headache in children and adolescents
Authors: Callaghan Mary , Abu‐Arafeh Ishaq
Published: July 2010

Little is known about chronic posttraumatic headache (PTH) in children and adolescents. In this study we report on symptoms, clinical findings, and management of all children seen in our headache clinic who presented with recurrent headache following head injuries. A total of 23 children were identified over a period of 4 years. Twenty‐one children (13 male, eight female; mean age 11.2 years, age range 3.3 to 14.9 years, median 12.1 years) fulfilled the International Headache Society's clinical criteria for the diagnosis of chronic PTH. Mean duration of headache was 13.3 months (range 2 to 60 months, median 7 months). Children were followed up for a period of 5 to 29 months (mean 12.5 months, median 9 months). Head injuries were classified as serious in four patients and minor in 17. Clinical variables were compared between children with PTH and those without a history of head injury. The headaches were migraine in five patients, tension type in 13, and mixed in three patients. Tension‐type headache was significantly more common in children with chronic PTH than in those with no history of head injury, but the clinical course was comparable in the two groups.
Deletion of 8p: a report of a child with normal intelligence
Authors: Gilmore Linda , Cuskelly Monica , Jobling Anne , Smith Sali
Published: July 2010

The case is presented of a female infant with a distal deletion of 8p (8p23.1→pter) whose development was monitored over a 5‐year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford‐Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.
Safety profile and efficacy of botulinum toxin A (Dysporta) in children with muscle spasticity
Authors: Bakheit A M O , Severa S , Cosgrove A , Morton R , Roussounis S H , Doderlein L , Lin J‐P
Published: July 2010

Botulinum toxin A (BTX‐A) is widely used in the management of muscle spasticity in children. However, at present the dose of BTX‐A for a given patient is selected empirically. The aim of this study is to provide dosage guidelines that are based on risk/benefit assessment. This was a multicentre retrospective study of the safety profile and efficacy of BTX‐A in children with chronic muscle spasticity. Data in 758 patients who received a total of 1594 treatments were analysed (mean age 7.2 years; 429 males, 329 females). Spastic cerebral palsy (CP) was the most common diagnosis (94% of the study sample). Of all treatments 7% resulted in adverse events; incidence was related to the total dose rather than the dose calculated on the basis of body weight. The highest incidence of adverse events was observed in patients who received >1000 IU of BTX‐A per treatment session. The odds of an adverse event was 5.1 times greater for this group of patients than for those who had 250 IU or less (p<0.001). A good overall response to treatment was reported in 82% and treatment goals were fully or partially achieved in 3% and 94% of participants respectively. More patients in the highest dose group reported functional deterioration. Interestingly, multilevel treatments resulted in a better response than single‐level treatments (odds ratio 1.7, 95% CI 1.3 to 2.2, p=0.001).
Regional cerebral blood flow in weight‐restored anorexia nervosa: a preliminary study
Authors: Råstam Maria , Bjure Jan , Vestergren Eleonor , Uvebrant Paul , Gillberg I Carina , Wentz Elisabet , Gillberg Christopher
Published: July 2010

Twenty‐one individuals (19 females, two males) with teenage‐onset anorexia nervosa (AN), 19 of whom were weight restored, were assessed using single‐photon emission computed tomography (SPECT) 7 years after onset of AN, at a mean age of 22 years. For comparison we recruited a younger group without neuropsychiatric disorder (mean age 9:8 years; five females, four males) who underwent SPECT at follow‐up after an operation for coarctation of the aorta or because of lymphatic leukaemia. Ethical considerations precluded the study of regional cerebral blood flow (rCBF) in participants with completely normal development. The group with AN showed marked hypoperfusion of temporal, parietal, occipital, and orbitofrontal lobes compared to the contrast group. rCBF was not correlated to body mass index in any of the groups. Results suggest that, even long after re‐feeding has occurred, AN may be associated with moderate to severe cerebral blood flow hypoperfusion in the temporoparietal (or temporoparietooccipital) region and in the orbitofrontal region. A limitation of the study is that the young contrast group in this study could be expected to have a higher global rCBF than the group with AN. However, this should not significantly affect the relative values used in this study.
Gabapentin as add‐on therapy in children with refractory partial seizures: a 24‐week, multicentre, open‐label study
Authors: Appleton Richard , Fichtner Klaus , LaMoreaux Linda , Alexander Jeannine , Maton Stephen , Murray Guta , Garofalo Elizabeth
Published: July 2010

The efficacy and safety of gabapentin as add‐on therapy for refractory partial seizures in 237 children, aged 3 to 12 years were evaluated over a 6‐month period. All children received gabapentin at 24 to 70 mg/kg/day. Efficacy variables included the percent change in seizure frequency and the responder rate (defined as those patients who showed >50% reduction in seizure frequency). For all partial seizures, the median percent change in seizure frequency was ‐34% and the overall responder rate was 34%. Simple partial seizures showed a median reduction of‐53%; complex partial seizures, ‐38%; and secondarily generalized tonic‐clonic seizures, ‐35%. Thirteen patients (5%) withdrew during the 6‐month period because of adverse events. Concurrent antiepileptic medication remained unchanged in 185 patients (78%), was decreased in 27 (11%), and increased in 25 (11%) patients. This 6‐month follow‐up study has demonstrated that gabapentin was well tolerated and appeared to show a sustained efficacy in a large population of children with refractory partial and secondarily generalized tonic‐clonic seizures.
Hyperkinetic movement disorder in an 11‐year‐old child treated with bilateral pallidal stimulators
Authors: Gill S , Curran A , Tripp J , Melarickas L , Hurran C , Stanley O
Published: July 2010

Pallidal stimulation is widely used in the treatment of movement disorder in adults but is less well reported in the treatment of dystonia in children. Despite inconsistent results in the past, its use in dystonia in Parkinson's disease is again attracting interest with promising results. Bilateral as well as unilateral pallidotomies have been performed and are felt to be required in some cases of dystonia. Use of depth electrodes to provide long‐term electrical stimulation to pallidum and other basal ganglia structures has recently become more widespread. This technique is felt to have a lower morbidity, especially in bilateral procedures. Here we present the case of an 11‐year‐old boy with severe hyperkinetic movement disorder who showed sustained improvement after bilateral pallidal stimulation implantation.
Neuropsychological disorders related to interictal epileptic discharges during sleep in benign epilepsy of childhood with centrotemporal or Rolandic spikes
Authors: Baglietto Maria Giuseppina , Battaglia Francesca Maria , Nobili Lino , Tortorelli Silvia , Negri Emanuela De , Calevo Maria Grazia , Veneselli Edvige
Published: July 2010

Nine children (five males, four females; age range 6 years 1 month to 11 years 1 month) affected by benign epilepsy of childhood with centrotemporal or Rolandic spikes (BECRS) with EEG evidence of marked activation of interictal epileptic discharges (IEDs) during sleep, and nine unaffected control children matched for age, sex, and socioeconomic status, were enrolled in a prospective study. At the time of detection of IED activation during sleep, patients showed a mean Full‐Scale IQ score within the normal range, but significantly below that of control participants; neuropsychological assessment revealed disorders in visuospatial short‐term memory (Corsi's Block Tapping Test), attention, and cognitive flexibility (Trail Making Test and Stroop Color‐Word Test), picture naming, and fluency (Benton's Naming Test and Word Fluency), visuoperceptual skill (Ghent‐Poppelreuter and Street Gestalt Completion Tests) and visuomotor coordination (Bender Test). After detection of IED activation during sleep, children were followed up for 2 years. At the time of IED remission (T1), neuropsychological re‐evaluation showed a notable increase in IQ score and a significant improvement (t‐test: p<0.007) in visuomotor coordination, non‐verbal short‐term memory, sustained attention and mental flexibility, picture naming, and visual‐perceptual performance. At T1, patients’performance did not differ from the controls (Mann‐Whitney U test).
Pyridoxine‐dependent seizures responding to extremely low‐dose pyridoxine
Authors: Grillo Eugênio , Da Silva Ronaldo J M , Barbato Jorge H
Published: July 2010

We report on a male infant with pyridoxine dependency and seizures from birth, controlled with pharmacological doses of pyridoxine at 4 months of age. Seizures stopped between 30 and 80 days of age when very‐low doses of pyridoxine were given in a multivitamin supplement. Daily dose was 0.5 mg that corresponded to 0.08 to 0.16 mg/kg/day when weight gain is considered. In previous reports doses have ranged from 0.2 to 30 mg/kg/day. Another distinctive feature was that this infant went into a coma and developed hypotonia and irregular breathing when pyridoxine was given by enteral tube which has usually been reported when the vitamin is given intravenously. Use of low doses of pyridoxine in multivitamin supplements could be a confounding factor for early diagnosis and appropriate treatment of pyridoxine‐dependent seizures.
Low levels of insulin‐like growth factor‐I in cerebrospinal fluid in children with autism
Authors: Vanhala Raija , Turpeinen Ursula , Riikonen Raili
Published: July 2010

Autism is a behaviourally defined syndrome characterized by disturbances of social interaction and communication and restrictions of behaviour patterns and imagination. The pathogenesis of autism is unknown but it is suspected that a number of genetic factors may be involved. Neurotrophic factors such as insulin‐like growth factor‐I (IGF‐I) play a role in early brain development. The aim of this study was to determine whether IGF‐I levels might be associated with the development of autism. IGF‐I levels were measured in the CSF of 11 children with autism (4 females, 7 males; mean age 3.8 years, SD 1.1) using a sensitive radioimmunoassay method and compared with levels in 11 control participants (6 females, 5 males; mean age 3.8 years). Levels of IGF‐I in the CSF were statistically significantly lower in the children with autism than in the control children (p=0.03). IGF‐I may play a role in pathogenetic mechanisms of autism and the role of neurotrophic factors in autism and other neurodevelopmental diseases should be studied further.
Contact and nutrient caregiving effects on newborn infant pain responses
Authors: Gormally Siobhan , Barr Ronald G , Wertheim Lea , Alkawaf Rajaa , Calinoiu Nicole , Young Simon N
Published: July 2010

To understand how the‘caregiving context’could affect responses to procedural pain, the authors sought to determine whether (1) the combined effects of sweet taste and holding (caregiving contact) were greater than the effects of either alone, (2) any combined effects were additive or interactive, and (3) the interventions had similar effects on behavioral (crying and facial activity) and physiological (heart rate, vagal tone) responses to the heel‐stick procedure in newborn infants in a randomized two‐factorial intervention trial. Eighty‐five normally developing newborn infants were studied with a mean gestational age of 39.4 weeks on the 2nd or 3rd day of life. Infants were randomized in blocks of eight to receive (1) no holding and water taste (control participants), (2) no holding and sucrose taste (sucrose group), (3) holding and water taste (holding group), or (4) holding and sucrose taste (holding and sucrose group). Crying was reduced significantly by taste and holding, and the interventions combined additively. Facial activity was only significantly reduced by holding. For physiological measures, the interventions interacted with each other and preintervention levels to reduce heart rate and lower vagal tone more during the procedure in infants in whom heart rate and vagal tone were higher before intervention. Consequently, sweet taste and holding interventions combined in complex ways when acting on different behavioral and physiological response systems to modify stressful pain experiences. The results suggest that providing a caregiving context when painful procedures are performed may be a simple and practical method of reducing pain experience in infants, and that no one measure captures these effects.
Adults with cerebral palsy: a survey describing problems, needs, and resources, with special emphasis on locomotion
Authors: Andersson Christina , Mattsson Eva
Published: July 2010

The purpose of this study was to describe problems and resources of adults with cerebral palsy (CP) with special emphasis on locomotion. A questionnaire concerning demographic facts, locomotion, musculoskeletal problems, and present physical activity was mailed to 363 adults with CP. Two hundred and twenty‐one adults, (125 male and 96 female; mean age 36 years, range 20 to 58 years) answered the questionnaire. Seventy‐seven per cent reported problems with spasticity. Eighty‐four per cent lived in their own apartments, with or without home services. Twenty‐four per cent worked full‐time and 18% had full disability pension. Twenty‐seven per cent had never been able to walk, 64% could walk with or without walking aids, 35% reported decreased walking ability, and 9% had stopped walking. Eighty per cent reported contractures and 18% had pain every day. Approximately 60% were regularly physically active, and despite their disability, 54% considered that they were not limited in their ability to move about in the community.
Predicting patterns of interaction between children with cerebral palsy and their mothers
Authors: Pennington Lindsay , McConachie Helen
Published: July 2010

Children with cerebral palsy (CP) have often been described as passive communicators. Their familiar conversation partners tend to direct and control interaction. Such conversation patterns may have various precursors: children's motor impairment, their intelligibility difficulties, and/or their level of cognitive development. To test the comparative influence of these factors, measures of motor function, speech, communication, cognitive and language skills were applied in 40 children (18 males, 22 females) with CP who were aged from 2 years 8 months to 10 years. These variables were correlated with measures relating to interaction patterns to investigate whether individual features predicted communication style. In this group, poor speech intelligibility was the main predictor of restrictive communication patterns, such as fewer child‐initiated conversation exchanges, more simple child communicative acts such as yes/no answers and acknowledgements of the other partner's messages. Results support the provision of therapy to increase children's intelligibility, whether spoken or augmented, such as the introduction of communication aids and training programmes for parents.
Interobserver reliability of the Gross Motor Performance Measure: preliminary results
Authors: Thomas Susan Sienko , Buckon Cathleen E , Phillips David S , Aiona Michael D , Sussman Michael D
Published: July 2010

Although assessment of the quality of movement in children with cerebral palsy (CP) is difficult, the development of the Gross Motor Performance Measure (GMPM) has facilitated this process. In order to determine the interobserver reliability of the GMPM, 36 children with spastic neuromuscular disorders (mean age 7 years, range 4 to 15 years) were evaluated using four of the five dimensions of the GMPM. Percent Agreement, Intraclass Correlations, and Kappas were calculated by both dimension and attribute to determine reliability. In addition, reliability measures were evaluated over time to determine whether reliability improved with continual use of the GMPM. Overall, interobserver reliability was in the ‘fair to good’ category regardless of the reliability measure used in the analysis. Reliability scores improved over time with a greater number of individual item scores moving from the ‘fair to good’ category to the ‘excellent’ category. Results from this study indicate that it is possible to assess reliably the quality of movement in children with CP.
Prolonged epileptic blindness in an infant associated with cortical dysplasia
Authors: Shahar Eli , Hwang Paul A
Published: July 2010

We report a female infant with status epilepticus amauroticus and intractable focal motor seizures associated with congenital cortical dysplasia. EEG demonstrated persistent epileptiform discharges over the right parieto‐temporal regions extending to occipital areas. She required cortical resection of the epileptic zone at age 8 months given failure of very high dose antiepileptic combinations. Histological analysis of a sample of cortex resected from the right central parieto‐temporal region, identified by electrocorticography as the focus of epileptic activity, showed cortical dysplasia. The seizures ceased and the infant gained full vision after 48 hours. During an 8‐year follow‐up period she has had a few short‐lived seizures, currently controlled with carbamazepine and vigabatrin. Her cognition and speech are intact. This case demonstrates that: (1) resection of a central temporo‐parietal focus, which may have spread to the occipital regions, may result in complete visual recovery and cessation of seizures; and (2) EEG should be considered in every infant with alleged delayed visual maturation, to rule out concealed epileptic activity.
Quality of life in preschool children born preterm
Authors: Theunissen Nicolet C M , Veen Sylvia , Fekkes Minne , Koopman Hendrik M , Zwinderman Koos A H , Brugman Emily , Wit Jan‐Maarten
Published: July 2010

The relationship of preterm birth to health‐related quality of life (HRQoL) was examined for children aged 1 to 4 years. Three gestational age groups with a NICU history were selected, <32 weeks (n=65), 32 to 36 weeks (n=41), ≥37 weeks (n=54), and a reference group from the open population (n=50). The main instrument was the TNO‐AZL Preschool Quality Of Life (TAPQOL) questionnaire, which was completed by the parents. In addition, other outcome measures obtained from parents or neonatologists were investigated. Children born <32 weeks had significantly lower HRQoL than the reference group in the scales for lungs, stomach, eating disorders, motor functioning, communication, and anxiety. Parental feelings towards the child were related to the child's HRQoL. We found differences between the neonatologists' and parents' perceptions of the children's situation, which can have clinical consequences (e.g. different opinions about what needed treatment). Neonatal intensive care after birth has HRQoL implications for all children, particularly in children born at <32 weeks of gestation.
Are families with adolescents and young adults with cerebral palsy the same as other families?
Authors: Magill‐Evans Joyce , Darrah Johanna , Pain Kerrie , Adkins Robin , Kratochvil Marianne
Published: July 2010

This study compared adolescents with cerebral palsy (CP) and their families to adolescents without physical disabilities and their families as the child enters and leaves adolescence (age ranges 13 to 15 years and 19 to 23 years). Families of 90 individuals with CP (42 females, 48 males) and 75 individuals without physical disabilities (34 females, 41 males) participated. They completed the Family Assessment Device, Life Situation Survey, Multidimensional Scale of Perceived Social Support, and Future Questionnaire. There were few differences in family functioning, life satisfaction, or perceived social support between the groups. Expectations of young adults with CP and parents of both adolescents and young adults regarding future independence and success were lower than the expectations of the control group. While the group results emphasize similarities between families during the two stages of adolescence, individual families and individual family members report specific challenges.
Life expectancy among people with cerebral palsy in Western Australia
Authors: Blair E , Watson L , Badawi N , Stanley F J
Published: July 2010

This report describes trends, predictors, and causes of mortality in persons with cerebral palsy (CP)using individuals identified by the Western Australian Cerebral Palsy Register and born between 1958 and 1994. Two thousand and fourteen people were identified (1154 males, 860 females), of whom 225 had died by 1 June 1997. Using date‐of‐death data, crude and standardized mortality rates were estimated and predictors of mortality sought using survival analysis stratified by decade of birth, description of impairments, and demographic and perinatal variables. For those born after 1967, the cause of death profile was examined over time. Mortality exceeded 1% per annum in the first 5 years and declined to age 15 years after which it remained steady at about 0.35% for the next 20 years. The strongest single predictor was intellectual disability, but all forms of disability contributed to decreased life expectancy. Half of those with IQ/DQ score <20 survived to adulthood, increasing to 76% with IQ/DQ score 20–34, and exceeding 92% for higher scores. Severe motor impairment primarily increased the risk of early mortality. Despite there being 72 persons aged from 25 to 41 years with severe motor impairment in our data set, none had died after the age of 25 years. Infants born after more than 32 weeks’gestation were at significantly higher risk of mortality than very preterm infants, accounted for by their higher rates of intellectual disability. No improvements in survival of persons with CP were seen over the study period despite advances in medical care, improved community awareness, and the increasing proportion of very preterm births among people with CP. This may be the result of improved neonatal care enabling the survival of infants with increasingly severe disabilities.
Functional status of adults with cerebral palsy and implications for treatment of children
Authors: Bottos Michele , Feliciangeli Alessandra , Sciuto Lucia , Gericke Christina , Vianello Andrea
Published: July 2010

This study examined the evolution of individuals with cerebral palsy (CP) from childhood to adulthood. Seventy‐two adults with a diagnosis of CP born between 1934 and 1980 were studied. Individuals were recruited and data comprehensively collected using case notes and through direct assessments of the majority of participants from three rehabilitation units in Bologna, Padua, and Rovigo in Italy. The main findings can be summarized as follows: contact with health and rehabilitation services was radically reduced once individuals reached adulthood; more individuals who were integrated into mainstream schools achieved and maintained literacy than those who had attended special schools; in a high number of participants, motor performance deteriorated once into adulthood. Independent walking or other forms of supported locomotion were lost in many on reaching adulthood. Of those who continued to walk, walking deteriorated in terms of distance. It was concluded that even though CP has been considered as predominantly a childhood pathological condition, the evolution of the effects of CP do not stop at 16 or 18 years of age. For this reason, the traditional child‐ (or infant‐) oriented approach concentrating mainly or exclusively on the achievement of independent walking, may not be an ideal approach to children with CP. Instead a more independence‐oriented therapeutic approach would be appropriate.
Outcome of pseudoseizures in children and adolescents: a 6‐year symptom survival analysis
Authors: Gudmundsson Olafur , Prendergast Michael , Foreman David , Cowley Susan
Published: July 2010

Outcome was studied of all children and adolescents with pseudoseizures without epilepsy, who were referred and treated as in‐patients and/or day patients in the tertiary psychiatric ward at Birmingham Children's Hospital, UK between 1988 and 1994. Information was derived from case‐note data. Freedom from seizures for six months was defined as ‘cure’, as no recurrences after this period were noted. Kaplan‐Meier survival analysis was used. Seventeen patients were identified: 15 females and two males; mean age at presentation to the tertiary psychiatric service was 12 years 9 months (SD 26 months; range 8 years 3 months to 15 years 9 months). Fourteen participants recovered and resumed regular school attendance. Three were lost to follow‐up due to being referred on to other agencies before recovery because they became too old for the service. Recovery followed an exponential distribution, with a mean symptom survival time following treatment of 1.5 years. These results are consistent with a treatment effect. Younger age at presentation, female sex, having more types of seizures, and not receiving both in‐patient and outpatient treatment were associated with better outcome. The deteriorating prognosis with age at treatment suggests prompt identification may be important in ensuring a good outcome.
Accommodative esotropia: an unrecognized cause of hemifacial spasm in children
Authors: Brodsky Michael C , Thomas A Henry
Published: July 2010

Pediatric hemifacial spasm can be a sign of an intracranial tumor. We examined two females, ages 2 and 6 years, who presented with hemifacial spasm as an early sign of accommodative esotropia. Initial ophthalmologic examination disclosed high hyperopia without detectable esotropia. Both children developed an intermittent esotropia over the following month. In the first child, the hemifacial spasm resolved concurrent with the onset of amblyopia. In the second child, spectacle correction produced immediate cessation of the spasms. In both children, squinting to avoid diplopia produced an overflow facial movement that manifested as hemifacial spasm. Accommodative esotropia should be considered in the differential diagnosis of pediatric hemifacial spasm.
Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis
Authors: Kieslich Matthias , Vecchi Marilena , Driever Pablo Hernaiz , Laverda Anna Maria , Schwabe Dirk , Jacobi Gert
Published: July 2010

Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20‐month‐old Italian female and a 4‐year‐old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.
Neonatal infarction within basal cerebral vein territory
Authors: Govaert Paul , Swarte Renate , Oostra Ann , Zecic Alexandra , Vanzieleghem Bart , Van Langenhove Peter
Published: July 2010

In this report, an unusual intracranial haemorrhage in a term male infant born to a mother with diabetes is explained on the basis of occlusion of both basal veins of Rosenthal. This diagnosis relies on anatomical location and iconographic aspect of the clots. Evidence that this vessel is occluded cannot be ascertained from ultrasound or MR angiographic techniques in the neonatal period. The basal vein has not been implicated in previous reports of neonatal brain haemorrhage.
Early feeding problems in children with cerebral palsy: weight and neuro‐developmental outcomes
Authors: Motion Sara , Northstone Kate , Emond Alan , Stucke Sally , Golding Jean
Published: July 2010

Using prospectively collected data from 13 971 births enrolled in a large population‐based cohort study (Avon Longitudinal Study of Parents and Children: ALSPAC), the prevalence of feeding difficulties at 4 weeks and 6 months of age in 33 children subsequently diagnosed with cerebral palsy (CP) were investigated. It was also assessed whether early feeding difficulties could be predictive of functional and growth outcomes at age 8 years. Weak sucking at 4 weeks of age was reported in 11 of 23 children with CP and in 2206 of 12299 (18%) of the remaining population (p<0.0001), and great difficulties feeding at 6 months of age was reported in two of 21 (10%) of the group with CP and in 373 of 10941 (3.3%) of control participants (p=0.017). Feeding difficulties at 4 weeks of age were associated with the pattern of functional impairment at age 4 years (p=0.009) and at 8 years (p=0.068), being clinically underweight (p=0.01), and having speech and swallowing difficulties (p=0.005) at 8 years of age. Early, persistent, and severe feeding difficulties are a marker for subsequent poor growth, feeding, and developmental outcomes and can identify children with CP who will benefit from gastrostomy feeding.
Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects
Authors: Niklasson Lena , Rasmussen Peder , Óskarsdóttir Sólveig , Gillberg Christopher
Published: July 2010

Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. IQ ranged between 46 and 100 with a mean score of 70. Half the group had an IQ < 70. In 13 individuals, attention‐deficit‐hyperactivity disorder (ADHD), mainly inattentive or combined type in most cases, and/or autism spectrum problems were diagnosed. Many participants, even among those who had an IQ within the normal range and had neither ADHD nor autistic spectrum problems, showed a characteristic and pronounced behavioural profile with low mental energy, initiation difficulties, deficits in sustained attention, and social interaction (often augmented by limited facial expression and communication and speech problems).
Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21
Authors: Keppler‐Noreuil Kim M , Welch Judy L , Major Heather J , Qiau Q , Jordan Diane K
Published: July 2010

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS and the Jackson checklist of 25 signs was inconsistent with the diagnosis for DS. Blood karyotype revealed: 46, XX,+21,dic(21;21) (p11.2;p11.2). Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation. Both parents had normal karyotypes. Chromosome and FISH analyses were performed on skin fibroblasts. These studies revealed mosaicism for a translocation trisomy 21 cell line as well as a second cell line consisting of one normal chromosome 21 and a ring chromosome 21 derived from translocation 21q21q which appeared to have a deletion of the critical region for DS involving the distal portion of the the long arm of chromosome 21. The chromosome findings illustrate an atypical phenotype in the spectrum of mosaic DS and suggest possible mechanisms for the variability of the phenotype. It also emphasizes the importance of evaluating other tissues for mosaicism when presented with atypical clinical findings.
Long‐term safety and efficacy of continuous intrathecal baclofen
Authors: Campbell William M , Ferrel Anne , McLaughlin John F , Grant Gerald A , Loeser John D , Graubert Catherine , Bjornson Kristie
Published: July 2010

Long‐term continuous intrathecal baclofen (CITB) infusion is a treatment option used to manage otherwise intractable spasticity and is delivered via an implantable pump. The purpose of this single‐center multidisciplinary review was to report on the long‐term safety and efficacy of CITB in the treatment of 21 children with intractable severe spasticity of cerebral origin. Nineteen recipients had spastic quadriplegia and two had spastic diplegia. Seven recipients had level IV severity on the Gross Motor Functional Classification System and 14 had level V. Median age at implantation was 12 years (range 4 to 20). Fifteen recipients were male, 6 were female. Seventeen recipients were alive at the end of the follow‐up period (31 to 78 months; mean 53, SD 4). The Ash worth scale showed a substantial decrease in spasticity in the upper and lower extremities at 6 months and at the most recent follow‐up. The Gross Motor Function Measure and Pediatric Evaluation of Disability Inventory showed no functional change. Most treatment goals were at least partly achieved. Caregivers reported a reduction in use of oral medication for spasticity, and improvements in comfort, function, and ease of care. Caregiver satisfaction was high. During 80 recipient‐years of pump operation, 153 treatment‐associated adverse events occurred: 27 of these were device‐related. There were four deaths unrelated to CITB, including one from acute pancreatitis. Our findings might assist in establishing patient selection criteria and treatment goals, improving patient follow‐up, and monitoring adverse events.
Adjustment in children with intractable epilepsy: importance of seizure duration and family factors
Authors: McCusker Christopher G , Kennedy Patrick John , Anderson Jennifer , Hicks Elaine M , Hanrahan Donncha
Published: July 2010

Seventy‐five families of children with intractable epilepsy but without a severe learning disability (mean age 7 years 1 month, SD 2 years 6 months; range 2 to 12 years) who attended a regional paediatric neurology service, were surveyed. A postal questionnaire was used which included standardized measures of child and family adjustment; forty‐eight families responded (64%; 31 males, 17 females). There was no significant difference between responders and non‐responders in terms of age, sex, number of other chronic illnesses and disabilities, age at epilepsy diagnosis, seizure type, nor number of antiepileptic drugs currently prescribed (p>0.05). The importance of including multidimensional measures of outcome was highlighted by the finding that epilepsy, pharmacological, and psychosocial factors were differentially associated with specific adjustment difficulties. Two factors appeared to be most pervasively implicated across a range of adjustment problems: frequency of rectal diazepam administration and family patterns of relating to each other (p<0.05). It appeared that duration of seizures (as indicated by frequency of rectal diazepam administration), rather than the frequency of seizures per se, was more pernicious in terms of poor adjustment. Intrafamilial relations (degree of conflict/cohesion and so on) were not only associated with adjustment difficulties in the child, but also with the frequency of seizures themselves. Implications for psychological interventions in intractable epilepsy in childhood are highlighted.
Developmental outcome and types of chronic‐stage EEG abnormalities in preterm infants
Authors: Okumura Akihisa , Hayakawa Fumio , Kato Toru , Watanabe Kazuyoshi , Kuno Kuniyoshi
Published: July 2010

The aims of this study were to determine the types of chronic‐stage EEG abnormalities that exist and to clarify their relation to neurodevelopmental outcome in preterm infants. We evaluated 183 preterm infants with gestational ages of less than 33 weeks (mean age 29.2 weeks) and weighing less than 2000g (mean weight 1275g). The first EEG was performed within 72 hours of life; thereafter, EEG was performed once every 1 to 4 weeks until the infant reached a post‐conceptional age of 40 to 42 weeks. Two kinds of EEG abnormalities, acute‐ and chronic‐stage abnormalities, were evaluated and we assessed mainly the latter. Chronic‐stage EEG abnormalities were divided into two patterns: disorganized and dysmature. Periventricular leukomalacia (PVL) and intraventricular haemorrhage (IVH) were diagnosed on the basis of ultrasound findings. Psychomotor development was examined every 3 months after discharge until at least 18 months of the infants’corrected age. Disorganized and dysmature patterns were observed in 52 and 28 infants respectively. Among the 52 infants with disorganized patterns, PVL was observed in 31 and IVH in seven infants. Thirty‐nine infants had cerebral palsy (CP). Twenty‐six achieved normal cognitive development. Of the 28 infants with dysmature patterns, PVL was seen in one and IVH in 11 infants. CP was seen in five infants. Only eight infants achieved normal cognitive development. Gestational age and birth weight were significantly lower in infants with dysmature patterns than in those with disorganized ones. Results indicate that types of chronic‐stage EEG abnormalities are related to types of neurological sequelae and are useful for assessing the mode of brain injury in preterm infants.
Muscle power development in preterm infants with periventricular flaring or leukomalacia in relation to outcome at 18 months
Authors: Samsom Janny F , Sie Lilian T L , de Groot Laila
Published: July 2010

Periventricular flaring (PVF) or periventricular leukomalacia (PVL) was diagnosed by brain ultrasound during the neonatal period in 44 infants (34 males, 10 females; mean gestational age 31 weeks 2 days, SD 2 weeks 1 day) admitted between 1995 and 1997. The infants were divided into three groups according to the severity of their condition. At 0, 3, and 6 months’corrected age an age‐adequate neurological examination with special emphasis on the relation between active and passive muscle power was performed and symmetry between right and left sides was assessed. Results for the whole body, as well as for the shoulders, trunk, and legs were classified as optimal, suspect, or abnormal. Motor outcome at 18 months’corrected age was graded in the same way. An overall optimal muscle power regulation was found in one infant at 0, two at 3, and one at 6 months. Suspect outcome was found at all ages in the three groups. At 0 months muscle power regulation did not differ between the three groups. At 3 and 6 months overall poor muscle power, primarily caused by poor muscle power regulation in the shoulders and trunk, was found in infants with PVL grades III or IV. At 18 months’corrected age 24 infants showed no neurological impairment, eight infants had minor impairment, and 12 infants had severe impairment, including all 10 infants categorized as having PVL grades III or IV. The best predictors of impairment at 18 months were the combined results of muscle power in the shoulders and trunk at 3 months with those of the shoulders at 6 months.
Quality of movement as predictor of ADHD: results from a prospective population study in 5‐ and 6‐year‐old children
Authors: Kroes Mariëlle , Kessels Alfons G H , Kalff Ariane C , Feron Frans J M , Vissers Yvonne L J , Jolles Jelle , Vles Johan S H
Published: July 2010

The aims of this prospective study were (1) to examine whether quantitative and/or qualitative aspects of motor performance in 5‐ to 6‐year‐old children can predict attention‐deficit‐hyperactivity disorder (ADHD) 18 months later; (2) to investigate whether this relation is also present in oppositional defiant disorder and conduct disorder (ODD/CD). Quantitative and qualitative aspects of motor performance were tested in a selected community sample (n=401; 232 males, 169 females; mean age 6 years 4 months, SD 6 months, range 5 years 4 months to 7 years 11 months) using the Maastricht Motor Test. Eighteen months later, standardized psychiatric information was obtained with the Amsterdam Diagnostic Interview for Children and Adolescents: 35 children were classified as having ADHD, and 92 children as having ODD/CD. Weighted analyses were used in logistic regression analyses to investigate predictive values. Unlike quantitative aspects of motor performance, qualitative aspects were predictive of ADHD. Motor performance was not predictive of ODD/CD.
Epilepsy with reversible bulbar dysfunction
Authors: Gayatri Neti Annapurna , Hughes Mary Imelda , Clarke Michael Anthony , Martland Timothy Richard
Published: July 2010

In patients with focal epilepsy, focal neurological dysfunction can occur due to status epilepticus and also as a post‐ictal phenomenon. Bulbar dysfunction as evident by drooling, dysarthria, swallowing difficulties, and palatal‐glossalpharyngeal weakness has been reported in conjunction with epilepsy. This is non‐progressive and is correlated in its severity with the frequency of seizures. Accompanying EEG discharges are often localized to rolandic areas that cortically represent oral movements and salivation. We report a 6‐year‐old male and a 6½‐year‐old female with progressive bulbar dysfunction resulting from epilepsy. Ictal EEGs in patient 1 did not confirm a diagnosis of epilepsy. With no evidence of a cortical or brainstem focus from EEG or MRI, it is very difficult to explain the mechanism of bulbar dysfunction. The complete restoration of bulbar function after treatment with antiepileptic drugs demonstrates the need to consider epilepsy in similar clinical situations.