Blue and Red Light-Evoked Pupil Responses in Photophobic Subjects with TBI.

PURPOSE: Photophobia is a common symptom in individuals suffering from traumatic brain injury (TBI). Recent evidence has implicated blue light-sensitive intrinsically photosensitive retinal ganglion cells (ipRGCs) in contributing to the neural circuitry mediating photophobia in migraine sufferers. The goal of this work is to test the hypothesis that ipRGC function is altered in TBI patients with photophobia by assessing pupillary responses to blue and red light. METHODS: Twenty-four case participants (mean age 43.3; 58% female), with mild TBI and self-reported photophobia, and 12 control participants (mean age 42.6; 58% female) were in this study. After 10 minutes of dark adaptation, blue (470 nm, 1 × 10 phots/s/cm) and red (625 nm, 7 × 10 phots/s/cm) flashing (0.1 Hz) light stimuli were delivered for 30 seconds to the dilated left eye while the right pupil was recorded. The amplitude of normalized pupil fluctuation (constriction and dilation) was quantified using Fourier fast transforms. RESULTS: In both case and control participants, the amplitude of pupil fluctuation was significantly less for the blue light stimuli as compared to the red light stimuli, consistent with a contribution of ipRGCs to these pupil responses. There was no significant difference in the mean pupil fluctuation amplitudes between the two participant groups, but case participants displayed greater variability in their pupil responses to the blue stimulus. CONCLUSIONS: Case and control participants showed robust ipRGC-mediated components in their pupil responses to blue light. The results did not support the hypothesis that ipRGCs are "hypersensitive" to light in TBI participants with photophobia. However, greater pupil response variability in the case subjects suggests that ipRGC function may be more heterogeneous in this group.

Observer-perceived light aversion behaviour in photophobic subjects with traumatic brain injury.

BACKGROUND: Photophobia is a common sequela of traumatic brain injury (TBI). Diagnostic tools for this debilitating condition are lacking. This investigation sought to determine whether masked observers can distinguish subjects with TBI-associated photophobia from matched controls based on video recordings of their ocular responses to light stimulation. METHODS: Cohorts of students (n = 20), photophobic TBI subjects (n = 28) and their matched control subjects (n = 12) were recruited. A custom pupillometer delivered bright (1013 -1014 photons/s/cm2 ), flashing (0.10 Hz) red (625 nm) and blue (470 nm) light stimuli to subjects, and consensual pupil light responses were recorded. Using a five-point scale, masked observers later graded light aversion behaviour in the pupil video recordings obtained from the student cohort based on observed blinking, tearing and squinting. A grading scale was developed and used by masked observers to grade light aversion behaviour in videos obtained from subjects with post-TBI photophobia and the matched controls. These subjects also scored their perceived discomfort during each light pulse using a five-point scale. RESULTS: The subjects in the TBI cohort scored both the blue and red flashing stimuli as evoking more discomfort, relative to control subjects, consistent with their reported photophobia. There was strong agreement among the masked observers for their grades of light aversion behaviour in the videos of ocular light stimulation (interclass correlation co-efficient = 0.78; 29 per cent perfect concordance). However, the median grades for the videos obtained from the TBI subject cohort were not significantly different from those for the control group. CONCLUSIONS: Clinicians cannot diagnose TBI-related photophobia based solely on video recordings of ocular responses to light. The need remains for an objective test to diagnose and manage this prevalent post-TBI symptom.

Behavioral, developmental, and educational problems in children with nonsyndromic trigonocephaly.

OBJECT: The neurobehavioral morbidity of nonsyndromic trigonocephaly is incompletely understood. The purpose of this study was twofold: first, to assess the degree of developmental, educational, and behavioral problems in patients with nonsyndromic trigonocephaly and second, to establish whether patients with mild degrees of trigonocephaly had a lower frequency of such problems. METHODS: The authors performed an observational study of the frequency of developmental, educational, and behavioral problems in 63 children with trigonocephaly at the National Craniofacial Centre in the Republic of Ireland between 1989 and 2004. The parents of the children completed a follow-up questionnaire. Thirty percent of patients had a mild form of trigonocephaly and were treated conservatively. The remainder underwent surgical correction. Speech and/or language delay was reported in 34% of the children. Thirty-three percent of the children needed to be assessed by a school psychologist, and 47% were receiving remedial or resource hours within the school system. Twenty percent of children required a special needs classroom assistant because of behavioral issues, and 37% of parents expressed concerns about their child's behavior. There were no statistically significant differences between children treated with surgery and those who had a mild deformity and were treated conservatively. CONCLUSIONS: Nonsyndromic trigonocephaly is associated with a high frequency of developmental, educational, and behavioral problems. The frequency of these problems is not related to the severity of the trigonocephaly.

Long-term otological outcome of hamular fracture during palatoplasty.

OBJECTIVE: It has been suggested that fracture of the hamulus during palatoplasty in children with cleft palate may lead to adverse otological sequelae, however, there is little evidence to support this. STUDY DESIGN AND SETTING: The otological records of 42 children with repaired cleft palate (excluding submucous cleft palate) aged 8 years old or older were examined. A questionnaire regarding the incidence, treatment, and outcome of middle ear problems was completed by the parents of 68 children with repaired cleft palate, aged 9 years old or older. RESULTS: There was no significant difference between children who did and did not undergo hamular fracture with regard to tympanic membrane appearance, audiometry, history of ear problems (P = 1.000), ear infections (P = 0.622), ventilation tube insertion (P = 0.532), or surgery for chronic otitis media (P = 1.000). Parents of children not undergoing hamular fracture reported a higher incidence of below normal hearing (P = 0.023).Conclusion and significance There is no evidence that hamular fracture during palatoplasty affects long-term otological outcome in cleft palate.

Incidence and outcome of middle ear disease in cleft lip and/or cleft palate.

OBJECTIVE: Otitis media with effusion is known to be very common among children with cleft palate, however, less is known regarding the natural history and outcome in this group. The purpose of the present study was to examine the incidence, natural history, treatment, and outcome of middle ear disease in children with clefts. METHODS: A questionnaire was sent to the parents of all children registered on the cleft lip and palate database at our institution. The medical records of all respondents were also reviewed. Statistical analysis of the results was performed using Fisher's exact test in contingency tables and binary logistic regression analyses, where appropriate. RESULTS: 397 fully completed questionnaires were returned. Ear disease was much more common in children with cleft palate, or cleft lip and palate, than in children with cleft lip. Among children with cleft palate, ear problems (infections and/or hearing loss) were most prevalent in the 4-6-year-old age group. However, ear problems persisted at a substantial level for many years after this; only after the age of 12 years did problems appear to settle. The incidence of below normal current hearing and of surgery for chronic otitis media was significantly related to history of ear infections (P=0.000 and 0.000, respectively), and to increased number of ventilation tube insertions (P=0.000 and 0.000, respectively). CONCLUSIONS: Middle ear disease is common in children with cleft palate, and, unlike the case for children without clefts, has a prolonged recovery, and a substantial incidence of late sequelae. The higher incidence of below normal hearing and surgery for chronic otitis media in children undergoing a greater number of ventilation tube insertions, although most likely reflecting an increased underlying severity of otitis media in these children, also underlines the lack of long-term benefits of ventilation tubes in this group.

Non-syndromic trigonocephaly: surgical decision making and long-term cosmetic results.

BACKGROUND: Surgical correction is often required for cosmetic correction of trigonocephaly. The purpose of this paper was to report the long-term aesthetic outcome as appreciated by the parents/patients themselves. The self-evaluation of cosmetic outcome after trigonocephaly correction has not previously been reported. The management and different surgical techniques utilized over a 16-year period are discussed. MATERIALS AND METHODS: An observational study was undertaken of the clinical outcome, operative data, complications and cosmetic satisfaction of these trigonocephaly patients. The parents/child were asked to rate their satisfaction with the cosmetic outcome both in terms of head shape and scar appearance, on a five-point scale (excellent-5, very good-4, good-3, fair-2 and poor-1). RESULTS: Sixty-three patients presented with non-syndromic trigonocephaly over the 16 years. Nineteen of 63 had a mild form of trigonocephaly and were managed conservatively. The remainder underwent surgical correction. Forty-two of 44 (95%) underwent fronto-orbital advancement with either barrel staving (26/44) or frontal bone rotation/re-modelling (16/44), with 2 of 44 having burring of the metopic ridge. Head shape rating was regarded as excellent in 25 of 63 (40%), very good in 18 of 63 (28%), good in 18 of 63 (28%) and fair in 2 of 63 (4%). Of those that underwent surgery, the scar was zigzag in 32 of 44 and straight in 12 of 44. Scar was rated as being excellent in 21 of 44 (48%), very good in 12 of 44 (28%) good in 11 of 44 (24%). CONCLUSIONS: Metopic synostosis can result in varying degrees of severity. Milder forms can be treated conservatively, with more severe forms requiring both frontal bone re-modelling and fronto-orbital advancement. Surgical correction results in a high level of patient/parent satisfaction.

Sagittal synostosis: a review of 53 cases of sagittal suturectomy in one unit.

The role of sagittal suturectomy in the treatment of scaphocephaly remains controversial. The purpose of this study was to report the experience of the National Craniofacial Unit in Dublin. This unit is the referral centre for the Republic of Ireland and serves a population of approximately 3.5 million. Quantitative assessments were made using radiographs and the pre- and postoperative cephalic index (CI) was calculated. Patients were asked to score their head shapes in a questionnaire. The mean age at surgery for the 53 children was 4.9 months with a mean follow up of 8 years. Pre- and postoperative radiographs were available for analysis in 24 patients. The mean preoperative CI was 65.3. There was a statistically significant increase in the CI postoperatively to 73.7. Seventy five per cent of children achieved a 'normal' CI and 86% scored their head shapes as good to excellent. There was no correlation between the age at surgery and the CI achieved. Although only one child was not happy with the shape of the head, the impression was that the CI correlated poorly with the clinical assessment of the head shape. There were no significant complications. We therefore conclude that the sagittal suturectomy is a safe procedure that has a limited but definite potential to improve the CI. This procedure still has a place in the surgical repertoire of the craniofacial surgeon dealing with scaphocephaly.

Middle ear disease in children with congenital velopharyngeal insufficiency.

OBJECTIVE: To examine the incidence and natural history of middle ear disease in children with congenital velopharyngeal insufficiency (VPI) without cleft palate. SETTING AND SUBJECTS: Children with congenital VPI attending the combined cleft clinic at a tertiary cleft center. The diagnosis of congenital VPI in all cases was confirmed be the observation of hypernasality, nasal air escape, or both by a speech and language therapist and the demonstration of incompetence of the velopharyngeal sphincter by means of nasoendoscopy or videofluoroscopy. Children with overt cleft palate or postsurgical VPI were excluded. DESIGN: The children's medical records were reviewed, and a questionnaire regarding history of ear problems was sent to all parents. Children were divided into those with Pruzansky type I VPI (showing bifid uvula, midline diastasis of soft palate, or submucous cleft of the hard palate) and Pruzansky type II VPI (no visible stigmata). MAIN OUTCOME MEASURES: Incidence of reported ear problems, ear infections, hearing loss, and surgical intervention for middle ear disease in the whole group and in each of the subgroups. RESULTS: Seventy-one parents returned completed questionnaires. The overall incidence of middle ear disease was 63%, with 28% reported to have below-normal hearing. There was no significant difference between children with Pruzansky types I and II VPI with respect to incidence of otopathology or hearing loss. CONCLUSIONS: Irrespective of the presence of any visible palatal abnormalities, children with congenital VPI showed a substantial incidence of otopathology and should thus be closely monitored.