Ann Bye - Academia.edu (original) (raw)

Papers by Ann Bye

Developmental Medicine & Child Neurology, Aug 24, 2010

SUMMARYThree cases with sensory peripheral neuropathies are reported. Case 1 presented with scoli... more SUMMARYThree cases with sensory peripheral neuropathies are reported. Case 1 presented with scoliosis and cases 2 and 3 presented with abnormal gait. None had trophic limb changes, evidence of weakness or a tendency to self‐mutilation and each had normal motor studies on neurophysiological testing.' Sural nerve biopsies showed a severe loss of myelinated fibres and case 3 had evidence of denervation on muscle biopsy. These cases are presented as examples of hereditary sensory neuropathy type II. They are unusual in that they do not have trophic changes.RÉSUMÉneuropathie sensorielle héréditaire de type II sans modifications trophiquesL'article rapporte trois cas de neuropathie sensorielle périphérique. Il existait une scoliose dans le cas 1, une démarche anormale dans les cas 2 et 3. Dans aucun cas il n'y avait de signes d'altérations trophiques, de faiblesses musculaires ou de tendances à l'auto‐mutilation; tous les cas étaient normaux sur le plan de la motricité et des tests neuro‐physiologiques. La biopsie du S.P.E. révélait une perte sévère de fibres myélinisées et pour le cas 3, des signes de dénervation apparaissaient à la biopsie muscularie. Ces cas sont présentés comme exemples de neuropathie sensorielle héréditaire de type II. Ils sont inhabituels du fait de l'absence d'altérations trophiques.ZUSAMMENFASSUNGHeriditäre sensorische Neuropathie Typ II ohne trophische StörungenEs werden drei Fälle mit peripherer sensorischer Neuropathie vorgestellt. Fall 1 hatte eine Skoliose und Fall 2 und 3 hatten einen abnormen Gang. Reiner hatte trophische Gliedmaßenveränderungen, Anzeichen für Schwäche oder eine Tendenz zur Selbstverstümmelung und alle hatten normale Ergebnisse bei den neurophysiologischen Untersuchungen. Biopsien des N. suralis zeigten eine starke Verminderung der myelinisierten Fasern und beim Fall 3 fanden sich bei der Muskelbiopsie Hinweise für eine Denervation. Diese Fälle werden als Beispiele der hereditären sensorischen Neuropathie Typ Il vorgestellt. Sie sind ungewöhnlich, weil sie keine trophischen Veränderungen aufweisen.RESUMENNeuropatía sensorial hereditaria de tipo II sin alteraciones tróficasSe aportan tres casos de neuropatía sensorial periférica. El numero 1 tenia una escoliosis y los casos 2 y 3 tenían una marcha anómala. Ninguno tenia cambios tróficos en las extremidades, evidencia de debilidad o tendencia a la automutilación y todos ellos tenian unos estudios motores normales en los exámenes neurofisiológicos. La biopsia del nervio sural mostró una marcada pérdida de fibras mielinizadas y en el caso 3 una evidencia de denervación en la biopsia muscular. Estos casos constituyen ejemplos de neuropatía hereditaria sensorial tipo II. Son inusuales en el sentido de que no presentan alteraciones tróficas.

Pediatric Neurology, Mar 1, 1994

A neonate with benign familial neonatal convulsions is presented. Ictal electroencephalography de... more A neonate with benign familial neonatal convulsions is presented. Ictal electroencephalography demonstrated a seizure of right frontal onset with generalization and one of right frontal onset which remained confined to that hemisphere. Very few ictal recordings of this entity exist. In this patient a partial seizure and a seizure with generalization were recorded, emphasizing the difficulties with the present classification.

Modern Medicine, 2005

The syndromal diagnosis or epilepsy, which is based on seizure type, clinical features and EEG da... more The syndromal diagnosis or epilepsy, which is based on seizure type, clinical features and EEG data, directs the further investigation of the condition end determines the choice of medication.

Pediatric Neurology, 1994

Journal of Paediatrics and Child Health, 1983

ABSTRACT. Fourteen children with the Prader‐Wllli syndrome have been managed at the Royal Alexand... more ABSTRACT. Fourteen children with the Prader‐Wllli syndrome have been managed at the Royal Alexandra Hospital for Children between the years 1964–1980 — twelve male, two female. Six male children developed features of the obesity hypoventilation syndrome. The age of onset of this complication ranged from 4.0 to 12.6 years.With one exception those children with the obesity hypoventilation syndrome were more obese than those without it. At the time of onset of the syndrome, five of six patients had weights greater than or equal to 6.5 standard deviations above ideal body weight. Those children without the obesity hypoventilation syndrome had a range of standard deviations 1.0 to 4.2 above the ideal body weight. In four of six cases weight reduction and a cardiac failure regimen resulted in reversal of the obesity hypoventilation syndrome. With two of the six children there had been cardiomegaly and increased pulmonary venous vascularity on x‐ray at a chronological age of three months. ...

Journal of Inherited Metabolic Disease, 1995

Journal of Child Neurology, 1992

Staring episodes in children may be ictal or nonictal, and telemetry helps make this distinction.... more Staring episodes in children may be ictal or nonictal, and telemetry helps make this distinction. Twenty-seven children referred to our service for elucidating the nature of their staring spells were studied by telemetry. No staring events were recorded in four children. The staring events were not associated with electroencephalographic (EEG) changes in 12 children. In 11 children, the staring events had EEG accompaniments: four had generalized spike-and-wave changes; three had focal or asymmetrical changes; and four had generalized decrement (desynchronization), which has not been described before as an electrical correlate of staring. EEG video telemetry in this group of patients led to accurate diagnosis and appropriate medical, surgical or behavioral management. ( J Child Neurol 1992;7:39-43).

Epilepsia, 1994

Summary: We retrospectively analyzed the clinical manifestations of complex partial seizures (CPS... more Summary: We retrospectively analyzed the clinical manifestations of complex partial seizures (CPS) in children aged 10 years using video and EEG telemetry and evaluated their course, investigations, management, and seizure status at follow‐up. Seventeen patients with CPS were studied at the Prince of Wales Children's Hospital (POWCH) and Prince Henry Hospital (PHH) between 1987 and 1992. Because 1.5 of the 17 patients had intractable seizures, the population was selective. Mean age was 6.5 years; 4 patients were aged 2 years. Clinical features were normal or mild intellectual handicap (1 3); hemiplegia (5); and infantile spasms preceding CPS (4); of these, 2 also had simple partial motor seizures. Structural abnormalities were noted on scanning in 9 patients. Eighty‐seven seizures were reviewed. Mean duration of each clinical seizure was 59.7 s (total population), 108 s (subgroup 1, aged 2 > years), and 48.5 s (subgroup 2, aged 2 years). Major ictal manifestations were auras ...

Annals of Neurology, 1993

The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipita... more The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge‐Weber syndrome.

Epilepsia, 1998

Summary: Purpose: The role of quantitative magnetic resonance imaging (MRI) in evaluation of chil... more Summary: Purpose: The role of quantitative magnetic resonance imaging (MRI) in evaluation of childhood epilepsy remains poorly defined, with minimal published data. Previous work from our center questioned the specificity of hippocampal asymmetry (HA) in an outpatient group whose epilepsy was defined by using clinical and interictal data only. By using childhood volunteer controls and defining epilepsy syndromes using video‐EEG monitoring, we readdressed the utility of HA in differentiating mesial temporal lobe epilepsy (Mtle) from other partial and generalized epileptic syndromes in children. Methods: Seventy children were enrolled; entry criteria were age younger than 18 years with predominant seizure type recorded on video‐EEG telemetry with volumetric MRI in all cases. Thirty healthy child volunteers had volumetric MRI. Epilepsy syndrome classification was according to ILAE. Results: Control data revealed symmetric hippocampi, mean smallernarger ratio of 0.96 (0.95–0.97,95% CI) ...

Journal of Paediatrics and Child Health

AimThe aim was to evaluate an educational video in educating doctors on the key messages and foll... more AimThe aim was to evaluate an educational video in educating doctors on the key messages and follow‐up pathways following a first afebrile seizure presentation. A multidisciplinary expert team developed the video (http://www.pennsw.org.au/families/resources/first-seizure-pack-and-video) based on available evidence and best‐practice. It contains a role‐play between the parent/child and physician. It addresses: key messages to impart following a first seizure, seizure first aid, safety messages including necessary precautions post‐discharge, contents of the First Seizure Pack for families, follow‐up pathway and issues for discussion with the paediatrician at a later appointment.MethodsPaediatric/Emergency department (ED) trainees across three Australian sites were recruited during terms 1 and 2, 2019. A repeated measures design was used. Multilevel modelling analyses were performed. The primary outcome was clinician knowledge. Secondary outcomes were confidence in answering questions ...

Neurology, 2021

Objective To assess the benefits and limitations of whole genome sequencing (WGS) compared to exo... more Objective To assess the benefits and limitations of whole genome sequencing (WGS) compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis of developmental and epileptic encephalopathies (DEE). Methods We performed WGS of 30 comprehensively phenotyped DEE patient trios that were undiagnosed after first-tier testing, including chromosomal microarray and either research ES (n = 15) or diagnostic MGP (n = 15). Results Eight diagnoses were made in the 15 individuals who received prior ES (53%): 3 individuals had complex structural variants; 5 had ES-detectable variants, which now had additional evidence for pathogenicity. Eleven diagnoses were made in the 15 MGP-negative individuals (68%); the majority (n = 10) involved genes not included in the panel, particularly in individuals with postneonatal onset of seizures and those with more complex presentations including movement disorders, dysmorphic features, or multiorgan involvement. A total of 42% of diagnos...

Epilepsy & Behavior, 2020

Early-onset epilepsy has broad physical and psychosocial impacts, and parents have a wide variety... more Early-onset epilepsy has broad physical and psychosocial impacts, and parents have a wide variety of information needs. This systematic review set out to assess 1) whether parents of children with early-onset epilepsy have unmet information needs and 2) their preferences regarding information content and style of information delivery. Methods: We searched Medline, Embase, PsychInfo, and CINAHL using keywords relating to information needs, information resources, and preferences for information delivery. We limited the search to parent populations and included all peer-reviewed publications published in English after the year 2005. Results: Eleven studies met our inclusion criteria. Parents reported a clear need for understandable, realistic, and focused information, highlighting a particular need for content about comorbidities and emotional support. Parents reported limited availability of detailed information resources on early-onset epilepsy, which compromised their ability to access appropriate healthcare services. Unmet information needs were associated with greater levels of stress, poorer psychosocial outcomes, and lower satisfaction with healthcare services. Significance: The results highlight the importance of detailed epilepsy information for families. Healthcare professionals should be aware of the impact of a lack of epilepsy information on family wellbeing. Multipronged and tailored interventions targeting the information needs of families are warranted.

Neurology, 2020

ObjectiveTo define the risks and consequences of cardiac abnormalities in ATP1A3-related syndrome... more ObjectiveTo define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.MethodsPatients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/−) to determine the sequence of events in seizure-related cardiac death.ResultsNinety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities were found in 52 of 87 (60%) with AHC, 2 of 3 (67%) with CAPOS, and 6 of 9 (67%) with RDP. Serial ECGs showed dynamic changes in 10 of 18 patients with AHC. The first Holter ECG was abnormal in 24 of 65 (37%) cases with AHC and RDP with either repolarization or conduction abnormalities. Echocardi...

Journal of Neurosurgery: Pediatrics, 2009

Our current understanding of nonaccidental head injury in children is the result of decades of ef... more Our current understanding of nonaccidental head injury in children is the result of decades of effort and the tireless work of numerous physicians. In 1860 Auguste Ambroise Tardieu, a French forensics expert, recognized important patterns of injury in children and identified nonaccidental trauma as the cause of these injuries. His work was ignored. In the years that followed, physicians continued to report these patterns of injury but were unable to identify the etiology. A fundamental misunderstanding of the usual cause of subdural hematoma (SDH) contributed to the confusion at that time. Early in the 20th century, neurosurgeons such as Wilfred Trotter recognized that SDHs were traumatic in origin. However, even Trotter's efforts to expose faults in the theories that SDHs primarily resulted from inflammatory or infectious processes were not accepted immediately. Eventually, the pattern of injuries in children was again recognized both by neurosurgeons, who began to identify an ...

Medical Teacher, 2007

A comprehensive methodology is needed to assess student teaching. The present study employed a tr... more A comprehensive methodology is needed to assess student teaching. The present study employed a triangulated approach evaluating participant perceptions of learning, critical reflection by the lecturer and peer observation to measure confidence, interest and usefulness of the subject matter. Using an interactive lecturing style, seven teaching sessions were delivered to medical students and junior doctors. Rating scales, open-ended questions and focus group discussions evaluated participant perceptions. Critical reflections and observations were made by the lecturer and independent learning consultants. Seventy per cent of participants rated the lecture on the highest scale for usefulness and interest. There was a significant post-lecture increase in clinical confidence in seizure identification (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.0005). Open-ended questions showed that videos were most useful (81/149) and interesting (109/149), and that the presentation of the syndromal classification provided a useful approach (114/149). Focus group discussion, lecturer and peer observation cross-validated these findings and highlighted the importance of expert commentary to the videos and the clinical relevance of material.

Journal of Paediatrics and Child Health, 2013

The study aimed to create and evaluate the educational effectiveness of a digital resource instru... more The study aimed to create and evaluate the educational effectiveness of a digital resource instructing paediatric trainees in a systematic approach to critical and quality observation of normal child development. Methods: A digital educational resource was developed utilising the skills of an expert developmental paediatrician who was videoed assessing normal early child development at a series of critical stages. Videos illustrated aspects of language, sophistication of play and socialisation, cognition, and motor progress. Expert commentary, teaching text and summaries were used. A randomised controlled trial evaluated the resource. Paediatric trainees were recruited from The Sydney Children's Hospitals Network. Outcome measures were repeated at three time points (pre-teaching, immediate-post and 1 month) and included self-rated attitudes, knowledge of markers of development and observational expertise. Qualitative data on teaching usefulness were obtained through open-ended questions. Results: Fifty-six paediatric trainees (registrar 79%, women 82%; mean age 31 years) completed the pre-assessment, 46 the immediate-post and 45 the 1-month follow-up (20% attrition). Compared with the Control group, the Teaching group scored higher over time on markers of development (P = 0.006), observational expertise (P < 0.0001), confidence (P = 0.035) and satisfaction (P < 0.0001). Teaching participants valued the video and expert commentary and reported improvement in confidence and understanding and acquiring a more structured approach. Conclusions: The 'Beyond Milestones' free online resource for medical professionals <http://learnpaediatrics.org/beyondmilestones/ password=cunningham> improves knowledge, increases confidence and is useful, providing a structured approach to developmental assessment. The techniques taught can be applied to every paediatric consultation.

Journal of Child Neurology, 1988

A study of the sural nerve was undertaken to determine latency to onset and peak, duration of act... more A study of the sural nerve was undertaken to determine latency to onset and peak, duration of action potential, amplitude, and conduction velocity in 33 children, 1 to 7 years old. Multiple tests per patient resulted in 140 measurements per variable. To determine if the interpatient measurement variation was a significant factor compared to the intrapatient differences, one-way analysis of variance was performed. With each variable the F statistic showed the interpatient variation was significantly different (P < .001) than the intrapatient measurement variation. There was no significant age effect in the latency to onset and peak, the amplitude, and the duration of action potential. The mean value for latency to onset was 2.430 msec, latency to peak 2.997 msec, duration 2.161 msec, and amplitude 8.736 μV. Age was highly significant (P < .001) with conduction velocities calculated using latency to onset (CV1) and latency to peak (CV2), since distance was less in the younger ch...