Early detection of cognitive impairments with the Montreal Cognitive Assessment in patients with uncomplicated and complicated mild traumatic brain injury.

OBJECTIVES: The Montreal Cognitive Assessement (MoCA) is a brief and standardized cognitive screening tool that has been used with several clinical populations. The aim of this study was to screen the early cognitive status of patients following mild traumatic brain injury (mTBI) with the MoCA. METHODS: The MoCA was administered within the first 2 weeks post-injury to 42 patients with uncomplicated mTBI, 92 patients with complicated mTBI and 50 healthy controls. RESULTS: Patients with complicated mTBI had a significantly lower performance (more impairments) on the total score of the MoCA than both the group with uncomplicated mTBI and the control group. Also, the group with uncomplicated mTBI had a significantly lower performance than controls. Moreover, age, education and TBI severity had a significant effect on the MoCA total score where younger, more educated and patients with less severe (higher GCS score) mTBI performed significantly better. CONCLUSIONS: The MoCA may be clinically useful to acutely screen cognition following mTBI.

Highlighting the differences in post-traumatic symptoms between patients with complicated and uncomplicated mild traumatic brain injury and injured controls.

OBJECTIVE: The goal of the current study is to explore the difference in acute post-concussive symptoms (PCS), headaches, sleep and mood complaints between groups of patients with complicated and uncomplicated mild traumatic brain injuries (mTBIs) and a comparable group of injured controls. Interactions among the following four factors were studied: presence of (1) PCS; (2) headaches; (3) sleep disorders; and (4) psychological status. METHODS: A total of 198 patients, followed at the outpatient mTBI clinic of the MUHC-MGH, completed questionnaires and a brief neurological assessment two weeks post-trauma. RESULTS: Whether they had a TBI or not, all patients presented PCS, headaches, sleep and mood complaints. No significant differences between groups in terms of reported symptoms were found. Variables such as depression and anxiety symptoms, as well as sleep difficulties and headaches were found to correlate with PCS. The high rate of PCS in trauma patients was observed independently of traumatic brain injury status. This study has also shown that patients with complicated mTBI were more likely to have vestibular impairment after their injury. CONCLUSION: The vestibular function should be assessed systematically after a complicated mTBI. Furthermore, the mTBI diagnosis should be based on operational criteria, and not on reported symptoms.

WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.

Dental enamel malformations, or amelogenesis imperfecta (AI), can be isolated or syndromic. To improve the prospects of making a successful diagnosis by genetic testing, it is important that the full range of genes and mutations that cause AI be determined. Defects in WDR72 (WD repeat-containing protein 72; OMIM *613214) cause AI, type IIA3 (OMIM #613211), which follows an autosomal recessive pattern of inheritance. The defective enamel is normal in thickness, severely hypomineralized, orange-brown stained, and susceptible to attrition. We identified 6 families with biallelic WDR72 mutations by whole exome sequence analyses that perfectly segregated with the enamel phenotype. The novel mutations included 3 stop-gains [NM_182758.2: c.377G>A/p.(Trp126*), c.1801C>T/p.(Arg601*), c.2350A>T/p.(Arg784*)], a missense mutation [c.1265G>T/p.(Gly422Val)], and a 62,138-base pair deletion (NG_017034.2: g.35441_97578del62138) that removed WDR72 coding exons 3 through 13. A previously reported WDR72 frameshift was also observed [c.1467_1468delAT/p.(Val491Aspfs*8)]. Three of the affected patients showed decreased serum pH, consistent with a diagnosis of renal tubular acidosis. Percentiles of stature and body weight varied among 8 affected individuals but did not show a consistent trend. These studies support that WDR72 mutations cause a syndromic form of AI and improve our ability to diagnose AI caused by WDR72 defects.

Olfactory function in acute traumatic brain injury.

OBJECTIVE: Traumatic brain injury (TBI) represents a significant public health problem and is associated with a high rate of mortality and morbidity. Although TBI is amongst the most common causes of olfactory dysfunction the relationship between injury severity and olfactory problems has not yet been investigated with validated and standardized methods in the first days following the TBI. METHODS: We measured olfactory function in 63 patients admitted with TBI within the first 12 days following the trauma by means of the Sniffin' Sticks identification test (quantitative assessment) and a parosmia questionnaire (qualitative assessment). TBI severity was determined by means of the Glasgow Coma Scale (GCS) and by duration of post-traumatic amnesia (PTA) as measured by the Galveston Orientation and Amnesia Test. RESULTS: Poor olfactory scores correlated with a longer amnesia period, but not with GCS scores. Further, we observed higher parosmia scores in assault victims than in victims of falls or motor vehicle collisions. CONCLUSIONS: We show that PTA is intimately related to olfactory problems following a TBI. Thus, a thorough evaluation of olfaction is essential in order to detect posttraumatic olfactory dysfunction and to take appropriate actions early on to help the individual deal with this impairment.