Outcomes of ventriculoperitoneal shunt insertion in the management of idiopathic intracranial hypertension in children.

PURPOSE: The ventriculoperitoneal (VP) shunt has become the procedure of choice for treatment of idiopathic intracranial hypertension (IIH). We aimed to assess the efficacy of frameless stereotactic placement of VP shunts for the management of medically resistant IIH in children and to assess the role of gender and obesity in the aetiology of the condition. METHODS: This is a retrospective analysis of the case notes of 10 patients treated surgically at the University Hospital of Wales in Cardiff, from May 2006 to September 2012. RESULTS: VP shunts were successful in relieving headache, papilloedema and stabilising vision. No sex predilection was identified, and increased BMI was a feature throughout the population, regardless of age. CONCLUSIONS: Neuronavigated VP shunt insertion is an effective mode of treatment for medically resistant IIH in children. The aetiological picture in children does not seem to be dominated by obesity, as in adults. Literature on childhood IIH is sparse, and larger scale, comparative studies would be of benefit to treating clinicians.

Vagal nerve stimulation in children under 12 years old with medically intractable epilepsy.

OBJECTIVE: This study aims to assess the efficacy and safety of vagal nerve stimulation (VNS) in children less than 12 years old operated on at the University Hospital Wales. METHOD: Retrospective review of patients undergoing VNS insertion, over a 3-year period, was undertaken. All children had a minimum follow-up period of 2 years. Sixteen patients were identified via the paediatric epilepsy surgery database. A case note review and telephone evaluation was conducted. Seizure frequency using the McHugh classification was the primary outcome measure, with anti-epileptic drug (AED) use as a secondary outcome measure. RESULTS: There were 10 males and 6 females. The mean time with epilepsy prior to surgery was 5.7 years and the mean age at the time of surgery was 7.6 years. Overall, nine (56 %) children experienced a reduction in their seizure frequency of 50 % or more. Of these, four (25 %) had a reduction of more than 80 %. Seven children (44 %) had no reduction in their seizure frequency, although two of these patients reported benefit regarding seizure control and post-ictal recovery. The VNS system was removed in two patients due to infection and no benefit, respectively. Half of the cohort (50 %) reduced the number of anti-epileptic drugs post-surgery, and there was an overall mean reduction of AED of 0.5. CONCLUSION: This study suggests that VNS is a safe and effective adjuvant therapy in children under 12 years old, with over half reporting significant benefit. Further studies are needed to enable preoperative selection of patients in order to maximise the potential benefit.

People with MECP2 mutation-positive Rett disorder who converse.

BACKGROUND: People with useful speech after regression constitute a distinct group of those with mutation-positive Rett disorder, 6% (20/331) reported among mutation-positive people in the British Survey. We aimed to determine the physical, mental and genetic characteristics of this group and to gain insight into their experience of Rett syndrome. METHODS: Clinical and molecular data for people with Rett, aged 10 or more years at follow-up (the study group, n = 13), with the ability to converse and a MECP2 mutation are presented. They were compared with an age-matched control group (n = 110), who could not converse and had a pathogenic MECP2 mutation. RESULTS: The study group differed significantly from the control group with regard to their disease severity (P < 0.001); feeding difficulty scores (P < 0.001); health scores (P < 0.001); epilepsy (P < 0.001); head circumference (P < 0.004); age at onset of the regression period (P < 0.001) (six in the study group did not regress) and mutation frequency (C-terminal deletions P = 0.014, R133C P < 0.006). The results indicate that favourable skewing of X-inactivation is only present in a small proportion of mild cases. Speech was fragmented with a soft, breathless quality, and all but two had obviously irregular breathing. One person with an R168X mutation preferred signing to speech. All enjoyed interpersonal contact, showing affection and preferring people to objects, clearly distinguishing the condition from autism. Most were habitually anxious. Music was a source of pleasure and relaxation also providing a valuable educational asset. Even in these most able cases, understanding was severely restricted in most and little initiative was shown. CONCLUSIONS: While the Rett profile is present in these people they are commonly not classic, and the presence of speech, good head growth and lack of regression may lead to missed diagnoses. A strong association was demonstrated between this milder form of the disease and R133C and C-terminal deletions.

A teenager epilepsy clinic: observational study.

Teenagers with epilepsy are a group with special needs whom we have specifically targeted in our clinical practice. All teenagers referred to our unit between 1997 and 2001 with definite or probable epilepsy, were considered for assessment by an adult neurologist and paediatric neurologist working together in a dedicated monthly clinic. A total of 207 patients aged 11-22 (mean 16.0) years, 95 male, were seen over 46 months. Epilepsy was our diagnosis in 173 (84%), classified as generalized (n=76), focal (n=70), or unclassified (n=27). Four others had had single seizures. 'Non-epilepsy' diagnoses (n=30) included vasovagal syncope in 17, non-epileptic attack disorder in six, and migraine in three; epilepsy had been erroneously diagnosed previously in eight of these. Existing antiepileptic drug treatment, or lack of it, was considered appropriate in 165 of the 207 patients. Major changes to medication made in 42 patients included new prescriptions for those previously untreated (n=28), changing type of medication (n=6), and stopping medication (n=8). Antiepileptic medication was withheld in 21 despite epilepsy or single seizure. All patients received appropriate advice on driving, contraception, and alcohol, and were offered further specialist nurse appointments. Of the 86 females on antiepileptic medication at the time of consultation, only 12 were already taking folate supplements. The clinic had an important role in confirming diagnosis, ensuring appropriate management, information provision and aiding seamless transition to adult epilepsy care.

An electropalatographic investigation of middorsum palatal stops in an adult with repaired cleft palate.

OBJECTIVE: Middorsum palatal stops are compensatory articulations that occur relatively frequently in cleft palate speech. This study used electropalatographic (EPG) and acoustic data to investigate /t/ and /k/ targets produced as middorsum palatal stops ([c]) by an adult with an articulation disorder associated with a repaired cleft palate. RESULTS: Two novel observations were made from the instrumental data. First, although /t/ and /k/ targets were judged by phonetically trained listeners as homophonous (i.e., both produced as [c]), the EPG data revealed that the place of articulation for the [c] produced for /t/ was more anterior than the place of articulation for the [c] produced for /k/. Second, production of palatal stops involved lateral release followed by a variable period of lateral friction. Measurements made from the instrumental data quantified the temporal extent of lateral friction during the aspiration period. CONCLUSIONS: These observations merit further systematic investigation in cleft palate speech, and the procedures reported in this study are considered appropriate for such future research.

Undifferentiated lingual gestures in children with articulation/phonological disorders.

Previous research using electropalatography (EPG) has shown that a distinctive articulatory characteristic of lingual consonants in the speech of school-age children with articulation/phonological disorders (APD) is a high amount of tongue-palate contact. Consonants produced in this way have been referred to as undifferentiated lingual gestures. This article reviews the EPG literature on undifferentiated gestures with 4 overarching goals: (a) to provide a precise articulatory description of undifferentiated gestures, (b) to estimate the rate of occurrence of undifferentiated gestures in children with APD, (c) to propose an original.interpretation of undifferentiated gestures, and (d) to discuss the significance of the gestures in the light of current theories of APD. Undifferentiated gestures typically occur during productions of lingual consonant targets and are characterized by contact that lacks clear differentiation between the tongue apex, tongue body, and lateral margins of the tongue. The EPG literature reports 17 school-age children with APD, of whom 12 (71%) show evidence of undifferentiated gestures. Standard transcriptions do not reliably detect undifferentiated gestures, which are transcribed as speech errors (e.g., phonological substitutions, phonetic distortions) in some contexts, but are transcribed as correct productions in other contexts. Undifferentiated gestures are interpreted as reflecting a speech motor constraint involving either delayed or deviant control of functionally independent regions of the tongue. The limitations of the current EPG literature are stated, and the need for research into undifferentiated gestures in preschool children is discussed.

Subdural haemorrhages in infants: population based study.

OBJECTIVES: To identify the incidence, clinical outcome, and associated factors of subdural haemorrhage in children under 2 years of age, and to determine how such cases were investigated and how many were due to child abuse. DESIGN: Population based case series. SETTING: South Wales and south west England. SUBJECTS: Children under 2 years of age who had a subdural haemorrhage. We excluded neonates who developed subdural haemorrhage during their stay on a neonatal unit and infants who developed a subdural haemorrhage after infection or neurosurgical intervention. MAIN OUTCOME MEASURES: Incidence and clinical outcome of subdural haemorrhage in infants, the number of cases caused by child abuse, the investigations such children received, and associated risk factors. RESULTS: Thirty three children (23 boys and 10 girls) were haemorrhage. The incidence was 12.8/100 000 children/year (95% confidence interval 5.4 to 20.2). Twenty eight cases (85%) were under 1 year of age. The incidence of subdural haemorrhage in children under 1 year of age was 21.0/100 000 children/year and was therefore higher than in the older children. The clinical outcome was poor: nine infants died and 15 had profound disability. Only 22 infants had the basic investigations of a full blood count, coagulation screen, computed tomography or magnetic resonance imaging, skeletal survey or bone scan, and ophthalmological examination. In retrospect, 27 cases (82%) were highly suggestive of abuse. CONCLUSION: Subdural haemorrhage is common in infancy and carries a poor prognosis; three quarters of such infants die or have profound disability. Most cases are due to child abuse, but in a few the cause is unknown. Some children with subdural haemorrhage do not undergo appropriate investigations. We believe the clinical investigation of such children should include a full multidisciplinary social assessment, an ophthalmic examination, a skeletal survey supplemented with a bone scan or a skeletal survey repeated at around 10 days, a coagulation screen, and computed tomography or magentic resonance imaging. Previous physical abuse in an infant is a significant risk factor for subdural haemorrhage and must be taken seriously by child protection agencies.

When is a velar an alveolar? Evidence supporting a revised psycholinguistic model of speech production in children.

Speech data from a single child with a phonological impairment were analysed with a view to assessing the influence of utterance mode (spontaneous vs. confrontation naming vs. repetition), lexical status (word vs. non-word) and phonological context (voicing status and position in word) on the accuracy of production of velar targets. Under these conditions, accuracy was found to vary between 'correct' velar and 'incorrect' alveolar place of articulation. First, accuracy increased over four conditions, from spontaneous speech to confrontation naming to real word repetition to non-word repetition. Second, there was a higher incidence of correct velar targets in initial than final position in the word, and a higher incidence of correct /k/ targets than /g/ targets. These findings are discussed in relation to a proposed model of child speech production, the configuration of which borrows heavily from similar models described recently in the literature. The model attempts to explain how a child represents and processes word-forms, and over time revises their pronunciation. The explanation offered for these findings entails a claim that speech articulations are concerned directly with reproducing perceptual phenomena and that their ability to do so accurately may be constrained by processing load.

CleftNet (Scotland): a network for the treatment of cleft palate speech using EPG.

Electropalatography (EPG) has proven its effectiveness in changing abnormal articulatory placement in cleft palate speech but clinicians often do not have ready access to such equipment. In order to improve access to EPG therapy, a network has been established which electronically links cleft palate centres throughout Scotland with EPG specialists based at Queen Margaret College (QMC), Edinburgh. The network was set up through a collaborative project entitled 'CleftNet Scotland', funded by the Scottish Office Department of Health. In this paper, the rationale and overarching aims of CleftNet Scotland are described and the efficacy of this form of EPG therapy illustrated by descriptions of two cases.

Normative Scottish data on the CELF-RUK: a pilot study.

There are relatively few standardised tests available for assessing language abilities in older children. A widely used test in Britain is the Clinical Evaluation of Language Fundamentals-Revised (CELF-R, Semel et al. 1987). One potential problem with its use in the UK is that the test has been standardised on American children. In this investigation, the CELF-RUK was administered to twenty Scottish language-normal children, aged 12;0-12;11 years. The results showed that the Scottish children's scores were significantly lower than the American standardisation sample scores for the expressive subtests but not significantly different for the receptive subtests. The results suggest that further research is needed before the test can be used confidently with Scottish children with language impairment.

Preliminary study of articulatory reorganisation of fricative consonants following osteotomy.

Patients who undergo osteotomy experience a radical change in the skeletal relationship between the mandible and maxilla and as yet little is known about how this affects speech articulation. This study investigated the extent to which articulatory placement for the lingual consonant /s/ changed following surgery. Using the technique of electropalatography and acoustic analysis, patients' productions of fricative sounds were recorded before and after osteotomy. Five patients were investigated, 3 with mandibular prognathism and 2 with maxillary protrusion. Results showed that there were significant changes in articulatory placement after the operation, and that these were correlated with an acoustic measure (CPF). The direction of change could be predicted on the basis of the type of operation undergone, and these changes were maintained 6 months post-operatively. The implications of the findings are discussed.

Electropalatographic and perceptual analysis of the speech of Cantonese children with cleft palate.

This study used electropalatographic and perceptual analysis to investigate the speech of two Cantonese children with repaired cleft palate. Some features of their speech, as identified from the perceptual analysis, have been previously reported as being typical of children with cleft palate. For example, fricatives and affricates were vulnerable to disruption, and obstruent sounds were judged by listeners to have posterior placement. However, some apparently language-specific characteristics were identified in the Cantonese-speaking children. First there was a relatively high incidence of initial consonant deletion, and for one subject /s/ and /f/ targets were produced as bilabial fricatives. EPG error patterns for target lingual obstruents were largely similar to those reported to occur in English- and Japanese-speaking children. In particular, broader and more posterior tongue-palate contact was observed, and intrasubject variability was noted. There was also evidence of simultaneous labial/velar and alveolar/velar constriction for labial and velar targets respectively. The clinical implications of the findings are discussed.

A study of obstruent sounds in school-age children with speech disorders using electropalatography.

In this study EPG was used to investigate the articulatory characteristics of voiceless coronal obstruent targets /s, f, tf, t/ in ten children with functional articulation disorders. Perceptually based judgements of /s, f, tf/ revealed a variety of distortions, including palatal, lateralised and dental articulations. Their productions of /t/ were judged to be acceptable. From the EPG data, it was observed that individual children produced abnormal and often idiosyncratic tongue-palate contact for sounds which were heard as distorted. Some common trends were identified, for example, palatal fricatives and affricates were produced with constriction and a groove configuration in the posterior region of the palate. Lateralised articulations were generally associated with complete contact across the palate, increased tongue-palate contact and, for some children, incomplete lateral seal was observed. Place of articulation (as revealed by EPG) varied for coronal targets heard as lateralised. Some children produced these sounds with contact in the alveolar region, others had palatal contact and one child had contact in the velar region. These differences in place of articulation had not been identified from an auditory-based analysis. One child was heard to produce dental fricatives and affricates, and the EPG patterns were found to have an asymmetrical groove configuration in the anterior region of the palate. The clinical implications of the findings are discussed.

Cross-linguistic study of lateral misarticulation using electropalatography.

This paper reports on some preliminary aspects of a collaborative cross-linguistic study of normal and disordered Japanese and British English speech. The investigation compares lateralised productions of parallel s which are abnormal in the two languages. EPG and acoustic recordings were made of four Japanese and four British subjects. The EPG patterns were classified according to certain criteria, such as the presence or absence of complete constriction between the tongue and the hard palate, and the area and location of this contact. Findings revealed that lateralised articulations varied between individual speakers, but that Japanese and English productions were broadly similar. Acoustically, misarticulations in both languages were characterised by a lower frequency of peak energy than would be expected in normal productions.

Phonetic and phonological aspects of English affricate production in children with speech disorders.

In this paper we consider phonetic and phonological aspects of the English voiceless affricate /t integral of/ as it is realised by children with developmental speech disorders. The speakers described in the study have normal /t/ but disordered /integral of/ and /t integral of/. Using electropalatography (Reading EPG), we compare the stop and fricative phases of /t integral of/ to independent /t/ and /integral of/. This comparison shows that the place of articulation of /t integral of/ can be predicted from that of independent /integral of/. There is a strict requirement for the affricate's stop release to be homorganic with its fricative phase, irrespective of the place of articulation of independent /t/. Sometimes, there is also an observable coronal gesture during the stop phase of a dorsal affricate indicating the influence of independent /t/. This is predicted by phonological theories in which the affricate is related to both /t/ and /integral of/ but not by theories in which the affricate is merely the stop counterpart go /integral of/.

Temporal and spatial aspects of lingual coarticulation in /kl/ sequences: a cross-linguistic investigation.

Temporal and spatial aspects of lingual coarticulation in /kl/ clusters in intervocalic position (VklV) were investigated in six European languages: Catalan, English, French, German, Italian, and Swedish. Three speakers of each language repeated a set of real words and nonsense items five times. Temporal overlap of /k/ and /l/ gestures, as represented by a numerical "overlap index", was interpreted as tongue-tip/tongue-body coarticulation, and was measured from electropalatographic and airflow records. Results revealed several language-specific features. For example, the tendency to overlap was different for the six languages. All the languages except Swedish showed some instances of overlap, and Catalan showed the strongest tendency. The vowel environment also had a significant effect: The presence of an open back vowel in V1 and V2 positions increased the tendency for overlap to occur. However, there was no statistically significant difference in overlap between nonsense and real words. Spatial information from EPG data showed that articulatory placement of the tongue-body gesture was more retracted in a /kl/ cluster compared to a singleton consonant. All the languages under investigation showed this phenomenon. These findings are discussed in terms of possible constraints operating between the tip/blade and tongue-body systems.

Visual display of tongue-palate contact: electropalatography in the assessment and remediation of speech disorders.

The technique of electropalatography (EPG) records the location and timing of tongue contacts with the hard palate during continuous speech. Recent developments in hardware and software design of the Reading electropalatograph are described and applications of the technique in assessment and remediation of a variety of speech disorders are outlined. In assessment, it is shown that EPG can provide insights into possible origins of auditorily perceived errors, and case descriptions illustrate how this information can lead to a more rationalised approach to treatment. In therapy, the provision of real-time visual feedback of tongue movement can be effective in the remediation of certain types of intractable speech problems. Finally, the importance of techniques such as EPG in the objective evaluation of treatment procedures is discussed in the light of the increasing demand for accountability within the speech therapy service.

Lingual activity in two speech-disordered children's attempts to produce velar and alveolar stop consonants: evidence from electropalatographic (EPG) data.

Research is accumulating to suggest that, in the process of phonological acquisition, children pass through a stage of producing subphonemic acoustic cues to distinguish target phonemic contrasts. These subtle, or covert, distinctions occur unnoticed by a transcriber, yet their existence is viewed as having potentially important theoretical and clinical implications. In this study, the technique of electropalatography (EPG) was used to investigate tongue placement in two speech-impaired subjects (sisters), during their attempts to produce alveolar/velar stop contrasts, and their EPG printouts compared to those of a normal subject. Transcription of the impaired subjects' speech showed that, whilst one was able overtly to produce the contrast, the other was using the phonological process of alveolar backing, and so was judged not to have the contrast. However, contrary to the predictions made based on the auditory transcription, the EPG data revealed that both children were making similar, and clearly distinguishable, lingual-palate contacts for the two places of articulation. Examination of the data revealed that the subject who was overtly producing the contrast was able to control the precise sequence of tongue movements necessary in the release phase of the two classes of stops. This critical stage in alveolar/velar stop production had not been mastered by the subject who was not producing a perceptible distinction. The clinical relevance of these findings is discussed.