Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

BACKGROUND: Biallelic SUFU variants have originally been linked to Joubert syndrome, comprising cerebellar abnormalities, dysmorphism, and polydactyly. In contrast, heterozygous truncating variants have recently been associated with developmental delay and ocular motor apraxia, but only a limited number of patients have been reported. Here, we aim to delineate further the mild end of the phenotypic spectrum related to SUFU haploinsufficiency. METHODS: Nine individuals (from three unrelated families) harboring truncating SUFU variants were investigated, including two previously reported individuals (from one family). We provide results from a comprehensive assessment comprising neuroimaging, neuropsychology, video-oculography, and genetic testing. RESULTS: We identified three inherited or de novo truncating variants in SUFU (NM_016169.4): c.895C>T p.(Arg299∗), c.71dup p.(Ala25Glyfs∗23), and c.71del p.(Pro24Argfs∗72). The phenotypic expression showed high variability both between and within families. Clinical features include motor developmental delay (seven of nine), axial hypotonia (five of nine), ocular motor apraxia (three of nine), and cerebellar signs (three of nine). Four of the six reported children had macrocephaly. Neuropsychological and developmental assessments revealed mildly delayed language development in the youngest children, whereas general cognition was normal in all variant carriers. Subtle but characteristic SUFU-related neuroimaging abnormalities (including superior cerebellar dysplasia, abnormalities of the superior cerebellar peduncles, rostrally displaced fastigium, and vermis hypoplasia) were observed in seven of nine individuals. CONCLUSIONS: Our data shed further light on the mild but recognizable features of SUFU haploinsufficiency and underline its marked phenotypic variability, even within families. Notably, neurodevelopmental and behavioral abnormalities are mild compared with Joubert syndrome and seem to be well compensated over time.

Caregiver and child perspectives of wellbeing in school-age children with childhood apraxia of speech.

PURPOSE: Childhood apraxia of speech (CAS) is a communication deficit that impacts a child's overall quality of life, including their academic and social interactions, yet few studies have investigated the impact from the child's perspective. Using The World Health Organization's International Classification of Functioning, Disability, and Health (ICF) framework, we examined the children's and caregivers' perspectives on the impact of CAS on their overall wellbeing. METHOD: Survey data were collected from 32 child-caregiver dyads for children ages 9-17 years with CAS. Items elicited responses along a 5-point scale to examine the perceived impact of children's speech impairments using the framework, including impact on communication, interpersonal interactions/relationships, and major life events. RESULT: Results from non-parametric statistical analyses revealed: (a) caregivers reported a significantly greater impact than children across individual ICF domains; (b) child responses were not significantly correlated with their caregiver's responses or with the child's age, gender, or severity indicators; and (c) both caregivers and children indicated the domain of communication was impacted more than other domains. CONCLUSION: Results suggest a potential disconnect in the perceived impact of CAS between the caregiver and child. Recommendations include facilitating a dialogue between the child-caregiver dyad and considering treatment goals that address wellbeing.

A preliminary study of white matter disconnections underlying deficits in praxis in left hemisphere stroke patients.

Limb apraxia is a higher-order motor disorder often occurring post-stroke, which affects skilled actions. It is assessed through tasks involving gesture production or pantomime, recognition, meaningless gesture imitation, complex figure drawing, single and multi-object use. A two-system model for the organisation of actions hypothesizes distinct pathways mediating praxis deficits via conceptual, 'indirect', and perceptual 'direct' routes to action. Traditional lesion- symptom mapping techniques have failed to identify these distinct routes. We assessed 29 left hemisphere stroke patients to investigate white matter disconnections on deficits of praxis tasks from the Birmingham Cognitive Screening. White matter disconnection maps derived from patients' structural T1 lesions were created using a diffusion-weighted healthy participant dataset acquired from the human connectome project (HCP). Initial group-level regression analyses revealed significant disconnection between occipital lobes via the splenium of the corpus callosum and involvement of the inferior longitudinal fasciculus in meaningless gesture imitation deficits. There was a trend of left fornix disconnection in gesture production deficits. Further, voxel-wise Bayesian Crawford single-case analyses performed on two patients with the most severe meaningless gesture imitation and meaningful gesture production deficits, respectively, confirmed distinct posterior interhemispheric disconnection, for the former, and disconnections between temporal and frontal areas via the fornix, rostrum of the corpus callosum and anterior cingulum, for the latter. Our results suggest distinct pathways associated with perceptual and conceptual deficits akin to 'direct' and 'indirect' action routes, with some patients displaying both. Larger studies are needed to validate and elaborate on these findings, advancing our understanding of limb apraxia.

Frontalis muscle flap eyelid reanimation technique in adults with severe ptosis or apraxia of eyelid opening.

PURPOSE: Assessment of the frontalis muscle flap eyelid reanimation surgical technique for adults with severe ptosis and apraxia of eyelid opening. METHODS: A retrospective case series of 30 eyes with severe ptosis or apraxia of eyelid opening. Outcomes were assessed for margin to reflex distance 1 (MRD1), lagophthalmos, complications, and need for subsequent surgical intervention. A paired t-test was used to compare preoperative and postoperative scores of a quality-of-life questionnaire. RESULTS: Thirty eyes of 19 patients underwent surgery, 16 (53%) with combined frontalis + levator-Muller muscle flap and 14 (46%) with frontalis muscle flap alone. There were 14 female and 5 male patients, with an average age of 55 years (range, 18-76). Mean preoperative MRD1 was -0.6 mm (range, -5 to 2) with mean levator excursion of 7.1 mm. Seventeen eyes had a myogenic etiology, five had a paralytic etiology, six had blepharospasm with apraxia of lid opening, and two had a neurodegenerative etiology. Nineteen eyes (63%) had previously undergone ptosis repair. Mean postoperative MRD1 was 2.5 mm (range, 0.5 to 5) at mean follow-up of 63.3 days. There were no serious surgical complications; minor complications included ocular surface keratopathy and one patient who required surgical revision. Results of the QOL questionnaire indicated significant improvement in vision-related symptoms postoperatively (p = 0.02). CONCLUSIONS: Use of the frontalis muscle flap eyelid reanimation technique, with or without a levator-Muller retractor muscle flap, was very effective in this case series and provided good upper eyelid position with acceptable corneal protection and high patient satisfaction.

Stretching of Putative Mechanoreceptors in the Inferior Tarsal Muscle Regulates Tonic and Clonic Reflex Contractions of Slow-Twitch Fibers in the Palpebral Orbicularis Oculi Muscle Causing Apraxia of Eyelid Opening: A Case Series.

The levator palpebrae superioris muscle (LPSM) and facial muscles comprise both fast-twitch fibers (FTFs) and slow-twitch fibers (STFs). Still, they lack the muscle spindles to induce reflex contractions of STFs. Because reflex contractions of STFs in the LPSM and frontalis muscle, which are the major eyelid opening muscles, are induced by stretching of mechanoreceptors in the superior tarsal muscle, those in the palpebral orbicularis oculi muscle (POOM), which is the major eyelid closing muscle, should not be induced by stretching of the same proprioceptors but instead induced by the proprioceptors in the vicinity of the POOM. Apraxia of eyelid opening (AEO) after eyelid closure might be caused by prolonged POOM contraction. Most patients with AEO tend to stretch the upper and lower eyelids by applying contact lenses and eyedrops to disinsert the aponeurosis and retractor from the tarsi. They taught us that pulling down or raising the lower eyelid decreased or increased involuntary contraction of the POOM, which relieved or worsened AEO, respectively. Then, they asked us to have the lower eyelid lowered and the upper eyelid raised surgically. Whenever the upper eyelid is opened by contractions of the LPSM with the global layer of superior rectus muscle (GLSRM), the lower eyelid is concomitantly opened by contractions of the global layer of inferior rectus muscle (GLIRM), which counteracts the contraction of the GLSRM to maintain the visual axis. We hypothesized that patients with retractor disinsertion raise the lower eyelid by eyelid closure to stretch putative mechanoreceptors in the inferior tarsal muscle (ITM), which induces prolonged tonic and clonic reflex contractions of STFs in the POOM, resulting in AEO. To retrospectively verify the hypothesis, we report five cases with AEO. In the first case, AEO was induced by tight eyelid closure but was prevented by pulling down the lower eyelid during eyelid closure. Surgery to reinsert retractors into the tarsi cured AEO. In the second case, the patient sustained both severe aponeurosis-disinserted blepharoptosis and AEO. In this patient, the first surgery to reinsert aponeuroses to the the tarsi cured AEO, but a tight eyelid closure induced prolonged POOM contraction. The second surgery conducted to reinsert the retractors to the tarsi cured AEO. In the third case, with the entire eyelid AEO, surgery done to reinsert the retractors to the tarsi almost cured the entire eyelid AEO. In the fourth case, an increased clonic contraction of the POOM on the right eyelid after a tight eyelid closure was relieved by 4% lidocaine instillation to anesthetize the ITM. In the fifth case, downgaze induced clonic reflex contraction of the right POOM because of the right retractor disinsertion. Thus, prolonged tonic and clonic reflex contractions of STFs in the POOM appeared to be regulated by enhanced stretching of putative mechanoreceptors in the ITM in patients with retractor disinsertion due to increased contractions and microsaccades of FTFs in the GLIRM. Because reflex contractions of STFs in the POOM by stretching of putative mechanoreceptors in the ITM might essentially attach the upper and lower eyelids to the globe, AEO might simply be the increased reflex contraction of the POOM.

A systematic scoping review of the literacy skills of children with childhood apraxia of speech: Recommendations for best practice and further research.

PURPOSE: Little is known about the literacy skills of children with childhood apraxia of speech (CAS) or effective methods for teaching them to read. This systematic scoping review aimed to synthesise what is known about this issue. METHOD: Nine databases were searched to identify relevant articles. Included articles were categorised by study design, quality, and confidence of CAS diagnosis. RESULT: Twenty-three articles were included, 17 described literacy skills of children with CAS and six trialled literacy interventions. Children with CAS had early skills deficits that manifest as literacy difficulties in the later school years and beyond. They frequently had poorer outcomes compared with both typical readers and children with other speech disorders. Both the extent of literacy impairment and responsiveness to intervention appear to be related to the severity of speech impairment. Four literacy interventions for children with CAS were identified. CONCLUSIONS: Children with CAS are at high risk of literacy difficulty and may require early literacy intervention to help them attain academic success. Further research is warranted to determine the longer-term literacy outcomes of children with CAS, appropriate means of assessment, and whether a systematic synthetic phonics approach is an effective form of literacy instruction for this population.

Pick's Disease Presenting as Tremulous Parkinsonism with Limited Levodopa Response-A Rare Cause of Corticobasal Syndrome.

BACKGROUND: Corticobasal syndrome is a clinical diagnosis and common pathological causes are corticobasal degeneration, progressive supranuclear palsy and Alzheimer's disease. OBJECTIVES: We would like to highlight a rare but important differential of corticobasal syndrome. METHODS: A 78-year-old female had a 4-year history of predominantly right-hand rest tremor, worsening of handwriting but no change in cognition. The clinical examination showed right upper limb postural and kinetic tremor, mild wrist rigidity and reduced amplitude of right-sided finger tapping. She was initially diagnosed as idiopathic Parkinson's disease. Five years after onset of symptoms, she demonstrated bilateral myoclonic jerks and right upper limb dystonic posturing. She could not copy movements with the right hand. The magnetic resonance imaging (MRI) revealed disproportionate atrophy in the parietal lobes bilaterally. The clinical diagnosis was changed to probable corticobasal syndrome. She passed away 11 years from onset of symptoms at the age of 85 years. She underwent a post-mortem. RESULTS: The anterior and posterior frontal cortex, anterior cingulate, temporal neocortex, hippocampus and amygdaloid complex demonstrated considerable tau-related pathology consisting of a dense background of neuropil threads, and rounded, paranuclear neuronal inclusions consistent with Pick bodies. The immunostaining for three microtubule binding domain repeats (3R) tau performed on sections from the frontal and temporal lobes, basal ganglia and midbrain highlighted several inclusions whilst no 4R tau was observed. She was finally diagnosed with Pick's disease. CONCLUSIONS: Pick's disease can rarely present with clinical features of corticobasal syndrome.

Childhood Apraxia of Speech: A Descriptive and Prescriptive Model of Assessment and Diagnosis.

Childhood apraxia of speech (CAS) represents a significant diagnostic and therapeutic challenge within the field of clinical neuropsychology, characterized by its nuanced presentation and multifactorial nature. The aim of this study was to distil and synthesize the broad spectrum of research into a coherent model for the assessment and diagnosis of CAS. Through a mixed-method design, the quantitative phase analyzed 290 studies, unveiling 10 clusters: developmental apraxia, tabby talk, intellectual disabilities, underlying speech processes, breakpoint localization, speech characteristics, functional characteristics, clinical practice, and treatment outcome. The qualitative phase conducted a thematic analysis on the most cited and recent literature, identifying 10 categories: neurobiological markers, speech motor control, perceptual speech features, auditory processing, prosody and stress patterns, parent- and self-report measures, intervention response, motor learning and generalization, comorbidity analysis, and cultural and linguistic considerations. Integrating these findings, a descriptive and prescriptive model was developed, encapsulating the complexities of CAS and providing a structured approach for clinicians. This model advances the understanding of CAS and supports the development of targeted interventions. This study concludes with a call for evidence-based personalized treatment plans that account for the diverse neurobiological and cultural backgrounds of children with CAS. Its implications for practice include the integration of cutting-edge assessment tools that embrace the heterogeneity of CAS presentations, ensuring that interventions are as unique as the children they aim to support.

The yes-no reversal phenomenon in patients with primary progressive apraxia of speech.

Patients who have a yes-no reversal respond "yes" when they mean no and vice versa. The unintentional response can be made both verbally and with gestures (e.g., head shake or nod, thumbs up or down). Preliminary reports associate this phenomenon with 4-repeat tauopathies including primary progressive apraxia of speech (PPAOS), nonfluent/agrammatic primary progressive aphasia, and corticobasal syndrome; however, the significance and timing of this symptom relative to others are not well understood. Whereas some accounts associate yes-no reversals with other binary reversals (e.g., up/down, hot/cold) and attribute the reversals to disturbances of selection within the language system, others implicate more general inhibitory control processes. Here, we compared clinical and neuroimaging findings across 30 patients with PPAOS (apraxia of speech in the absence of aphasia), 15 of whom had a yes-no reversal complaint and 15 who did not. The two groups did not differ on any of the language or motor speech measures; however, patients who had the yes-no reversal received lower scores on the Frontal Assessment Battery and motor assessments. They also had greater hypometabolism in the left supplementary motor area and bilateral caudate nuclei on [18F]-fluorodeoxyglucose PET, but only the right caudate nucleus cluster survived correction for multiple comparisons. We interpret these results to suggest that the yes-no reversal phenomenon is associated with cognitive abilities that are supported by the frontostriatal network; more specifically, impaired response inhibition.

Expressive amusia and aphasia: the story of Maurice Ravel.

The French composer, Maurice Ravel, at the peak of his career, showed signs of a progressive disorder that affected his ability to function with verbal and musical language, as noted by the neurologist Théophile Alajouanine. The worsening of the disease led to a craniotomy, performed in 1937, which failed to reveal the cause of his illness, and he died shortly thereafter. A lack of post-mortem neuropathological evidence precluded a definitive diagnosis of the illness, which remained enigmatic. Speculations about the precise diagnosis of Ravel's neurological disease have been largely based on Alajouanine's observations, which included aphasia and amusia, mostly expressive, and ideomotor apraxia, while musical judgement, taste, and memory remained relatively intact, implying different neuroanatomical substrates. A possible subform of frontotemporal lobar degeneration complex was the diagnostic suggestion of many authors. His untimely death deprived the world of this remarkable musician, and the music that remained trapped in his mind.

O compositor francês Maurice Ravel, no ápice de sua carreira, mostrou sinais de uma desordem progressiva que afetou sua capacidade de funcionar com linguagem verbal e musical, como notado pelo neurologista Théophile Alajouanine. O agravamento de sua condição levou a uma craniotomia, efetuada em 1937, que deixou de revelar a causa de sua doença, tendo ele falecido pouco depois. A ausência de evidência neuropatológica pós-morte impediu o diagnóstico definitivo da doença, que permaneceu enigmático. Especulações sobre o diagnóstico preciso da doença neurológica de Ravel foram baseadas sobretudo nas observações de Alajouanine, que compreendiam afasia e amusia, predominantemente expressiva, e também apraxia, enquanto o julgamento, gosto e memória musicais permaneceram relativamente intactos, implicando diferentes substratos neuroanatômicos. A possibilidade de uma subforma do complexo da degenearação lobar frontotemporal foi a sugestão diagnóstica de muitos autores. A sua morte prematura privou o mundo desse notável músico e da música que permaneceu presa em sua mente.

Augmentative and alternative communication in autism spectrum disorder: transitioning from letter board to iPad - a case study.

This case study examines the effective use of Augmentative and Alternative Communication (AAC) tools in enhancing communication skills in a 15-year-old male with Autism Spectrum Disorder (ASD). Initially exhibiting non-verbal tendencies, the subject experienced significant improvements in communication and social interaction following the introduction of a letter board and subsequent transition to an iPad. These AAC tools facilitated a marked development in his ability to articulate thoughts, engage in academic activities, and express complex ideas, particularly in science. The study highlights the role of AAC in expanding the communicative capabilities of individuals with limited or no verbal language, demonstrating notable advancements in both verbal expression and cognitive engagement. The findings underscore the transformative impact of personalized AAC interventions and suggest the potential for broader application in ASD support strategies. This case highlights the need for further research, including randomized controlled trials, to explore the efficacy of AAC tools in diverse ASD contexts.

Multimodal cross-examination of progressive apraxia of speech by diffusion tensor imaging-based tractography and Tau-PET scans.

Progressive apraxia of speech (PAOS) is a 4R tauopathy characterized by difficulties with motor speech planning. Neurodegeneration in PAOS targets the premotor cortex, particularly the supplementary motor area (SMA), with degeneration of white matter (WM) tracts connecting premotor and motor cortices and Broca's area observed on diffusion tensor imaging (DTI). We aimed to assess flortaucipir uptake across speech-language-related WM tracts identified using DTI tractography in PAOS. Twenty-two patients with PAOS and 26 matched healthy controls were recruited by the Neurodegenerative Research Group (NRG) and underwent MRI and flortaucipir-PET. The patient population included patients with primary progressive apraxia of speech (PPAOS) and non-fluent variant/agrammatic primary progressive aphasia (agPPA). Flortaucipir PET scans and DTI were coregistered using rigid registration with a mutual information cost function in subject space. Alignments between DTI and flortaucipir PET were inspected in all cases. Whole-brain tractography was calculated using deterministic algorithms by a tractography reconstruction tool (DSI-studio) and specific tracts were identified using an automatic fiber tracking atlas-based method. Fractional anisotropy (FA) and flortaucipir standardized uptake value ratios (SUVRs) were averaged across the frontal aslant tract, arcuate fasciculi, inferior frontal-occipital fasciculus, inferior and middle longitudinal fasciculi, as well as the SMA commissural fibers. Reduced FA (p < .0001) and elevated flortaucipir SUVR (p = .0012) were observed in PAOS cases compared to controls across all combined WM tracts. For flortaucipir SUVR, the greatest differentiation of PAOS from controls was achieved with the SMA commissural fibers (area under the receiver operator characteristic curve [AUROC] = 0.83), followed by the left arcuate fasciculus (AUROC = 0.75) and left frontal aslant tract (AUROC = 0.71). Our findings demonstrate that flortaucipir uptake is increased across WM tracts related to speech/language difficulties in PAOS.

A targeted review of prosodic production in agrammatic aphasia.

It is unclear whether individuals with agrammatic aphasia have particularly disrupted prosody, or in fact have relatively preserved prosody they can use in a compensatory way. A targeted literature review was undertaken to examine the evidence regarding the capacity of speakers with agrammatic aphasia to produce prosody. The aim was to answer the question, how much prosody can a speaker "do" with limited syntax? The literature was systematically searched for articles examining the production of grammatical prosody in people with agrammatism, and yielded 16 studies that were ultimately included in this review. Participant inclusion criteria, spoken language tasks, and analysis procedures vary widely across studies. The evidence indicates that timing aspects of prosody are disrupted in people with agrammatic aphasia, while the use of pitch and amplitude cues is more likely to be preserved in this population. Some, but not all, of these timing differences may be attributable to motor speech programming deficits (AOS) rather than aphasia, as these conditions frequently co-occur. Many of the included studies do not address AOS and its possible role in any observed effects. Finally, the available evidence indicates that even speakers with severe aphasia show a degree of preserved prosody in functional communication.

The neural correlates of limb apraxia: An anatomical likelihood estimation meta-analysis of lesion-symptom mapping studies in brain-damaged patients.

Limb apraxia is a motor disorder frequently observed following a stroke. Apraxic deficits are classically assessed with four tasks: tool use, pantomime of tool use, imitation, and gesture understanding. These tasks are supported by several cognitive processes represented in a left-lateralized brain network including inferior frontal gyrus, inferior parietal lobe (IPL), and lateral occipito-temporal cortex (LOTC). For the past twenty years, voxel-wise lesion symptom mapping (VLSM) studies have been used to unravel the neural correlates associated with apraxia, but none of them has proposed a comprehensive view of the topic. In the present work, we proposed to fill this gap by performing a systematic Anatomic Likelihood Estimation meta-analysis of VLSM studies which included tasks traditionally used to assess apraxia. We found that the IPL was crucial for all the tasks. Moreover, lesions within the LOTC were more associated with imitation deficits than tool use or pantomime, confirming its important role in higher visual processing. Our results questioned traditional neurocognitive models on apraxia and may have important clinical implications.

Differential spectral characteristics of the Spanish fricative /s/ in the articulation of individuals with dysarthria and apraxia of speech.

PURPOSE: This study examines whether there are differences in the speech of speakers with dysarthria, speakers with apraxia and healthy speakers in spectral acoustic measures during production of the central-peninsular Spanish alveolar sibilant fricative /s/. METHOD: To this end, production of the sibilant was analyzed in 20 subjects with dysarthria, 8 with apraxia of speech and 28 healthy speakers. Participants produced 12 sV(C) words. The variables compared across groups were the fricative's spectral amplitude difference (AmpD) and spectral moments in the temporal midpoint of fricative execution. RESULTS: The results indicate that individuals with dysarthria can be distinguished from healthy speakers in terms of the spectral characteristics AmpD, standard deviation (SD), center of gravity (CoG) and skewness, the last two in context with unrounded vowel, while no differences in kurtosis were detected. Participants with AoS group differ significantly from healthy speaker group in AmpD, SD and CoG and Kurtosis, the first one followed unrounded vowel and the latter two followed by rounded vowels. In addition, speakers with apraxia of speech group returned significant differences with respect to speakers with dysarthria group in AmpD, CoG and skewness. CONCLUSIONS: The differences found between the groups in the measures studied as a function of the type of vowel context could provide insights into the distinctive manifestations of motor speech disorders, contributing to the differential diagnosis between apraxia and dysarthria in motor control processes.

Change in Neurocognitive Function in Patients Who Receive CAR-T Cell Therapies: A Steep Hill to Climb.

Immunotherapy with chimeric antigen receptor T (CAR-T) cell therapies has brought substantial improvement in clinical outcomes in patients with relapsed/refractory B cell neoplasms. However, complications such as cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) limit the therapeutic efficacy of this treatment approach. ICANS can have a broad range of clinical manifestations, while various scoring systems have been developed for its grading. Cognitive decline is prevalent in CAR-T therapy recipients including impaired attention, difficulty in item naming, and writing, agraphia, and executive dysfunction. In this review, we aim to present the diagnostic methods and tests that have been used for the recognition of cognitive impairment in these patients. Moreover, up-to-date data about the duration of cognitive impairment symptoms after the infusion are presented. More research on the risk factors, pathogenesis, preventive measures, and therapy of neurocognitive impairment is crucial for better outcomes for our patients.

Recovery of gestures for persons with severe non-fluent aphasia and limb apraxia: A long-term follow-up study.

Persons with severe non-fluent aphasia would benefit from using gestures to substitute for their absent powers of speech. The use of gestures, however, is challenging for persons with aphasia and concomitant limb apraxia. Research on the long-term recovery of gestures is scant, and it is unclear whether gesture performance can show recovery over time. This study evaluated the recovery of emblems and tool use pantomimes of persons with severe non-fluent aphasia and limb apraxia after a left hemisphere stroke. The Florida Apraxia Screening Test-Revised (FAST-R) was used for measurements. The test includes 30 gestures to be performed (i) after an oral request, (ii) with the aid of a pictorial cue, or (iii) as an imitation. The gestures were rated on their degree of comprehensibility. The comprehensibility of gestures after an oral request improved significantly in five out of seven participants between the first (1-3 months after the stroke) and the last (3 years after) examination. Improvement continued for all five in the period between six months and three years. The imitation model did improve the comprehensibility of gestures for all participants, whereas the pictorial cue did so just slightly. The skill of producing gestures can improve even in the late phase post-stroke. Because of this potential, we suggest that gesture training should be systematically included in the rehabilitation of communication for persons with severe non-fluent aphasia.

Efficacy of LSVT LOUD® on Phonatory Control and Voice Quality in Patients with Primary Progressive Apraxia of Speech: Case Studies.

Primary progressive apraxia of speech (PPAOS) is a neurodegenerative syndrome characterized by the progressive and initially isolated or predominant onset of difficulties in the planning/programming of movements necessary for speech production and can be accompanied by dysarthria. To date, no study has used an evidence-based treatment to address phonation control in patients with PPAOS. The aim of this study was to evaluate the feasibility and efficacy of LSVT LOUD® as a treatment for phonatory control in speakers with PPAOS. Three speakers with PPAOS received LSVT LOUD® therapy, and changes in phonatory control, voice quality and prosody were measured immediately, and one, four and eight weeks after the end of the treatment. Overall, the results suggest that the treatment is feasible and could improve voice quality, intensity, and control in some patients with PPAOS. The generalization of the results is also discussed.

Anterior Minimally Invasive Approach (AMIS) for Total Hip Arthroplasty: Analysis of the First 1000 Consecutive Patients Operated at a High Volume Center.

(1) Background: Direct anterior approach (DAA) has recently acquired popularity through improvements such as the anterior minimally invasive surgical technique (AMIS). This retrospective study examines the first 1000 consecutive THAs performed utilizing the AMIS approach in a high-volume center between 2012 and 2017. (2) Methods: 1000 consecutive THAs performed at a single institution utilizing the AMIS approach were retrospectively analyzed with a minimum five-year follow-up. Full evaluation of demographic information, clinical parameters, intraoperative complications, and radiological examinations are reported. (3) Results: Overall complication rate was 9.4% (94/1000), including 8 dislocations, 57 femoral-cutaneous nerve injuries, 12 intraoperative femoral fractures, 9 infections and 8 leg length discrepancy. Implant survival rates were 98.5% at 1 year, 97.5% at 3 years, 97% at 5 years, and 95.3% at 7 years. Causes of failure included periprosthetic fractures (0.8%), implant dislocations (0.6%), septic loosening (0.5%), aseptic mobilizations (0.2%), and symptomatic limb length discrepancies (0.2%). (4) Conclusions: Controversies persist around the direct anterior approach (DAA) for THA, primarily regarding the increased complications rate during the learning curve. However, this study advocates for widespread adoption of the DAA approach. The results demonstrate acceptable complication rates and remarkable functional outcomes, affirming its viability in the broader orthopedic patient population.