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Neuropsychology Review Oct 2023Primary progressive aphasia (PPA) and primary progressive apraxia of speech (PPAOS) are neurodegenerative syndromes characterized by progressive decline in language or... (Review)
Review
Primary progressive aphasia (PPA) and primary progressive apraxia of speech (PPAOS) are neurodegenerative syndromes characterized by progressive decline in language or speech. There is a growing number of studies investigating speech-language interventions for PPA/PPAOS. An updated systematic evaluation of the treatment evidence is warranted to inform best clinical practice and guide future treatment research. We systematically reviewed the evidence for behavioral treatment for speech and language in this population. Reviewed articles were published in peer-reviewed journals through 31 May 2021. We evaluated level of evidence, reporting quality, and risk of bias using a modified version of the American Speech-Language Hearing Association (ASHA) Levels of Evidence, an appraisal point system, additional reporting quality and internal/external validity items, and, as appropriate, the Single Case Experimental Design Scale or the Physiotherapy Evidence Database - PsycBITE Rating Scale for Randomized and Non-Randomized Controlled Trials. Results were synthesized using quantitative summaries and narrative review. A total of 103 studies reported treatment outcomes for 626 individuals with PPA; no studies used the diagnostic label PPAOS. Most studies evaluated interventions for word retrieval. The highest-quality evidence was provided by 45 experimental and quasi-experimental studies (16 controlled group studies, 29 single-subject designs). All (k = 45/45) reported improvement on a primary outcome measure; most reported generalization (k = 34/43), maintenance (k = 34/39), or social validity (k = 17/19) of treatment for at least one participant. The available evidence supports speech-language intervention for persons with PPA; however, treatment for PPAOS awaits systematic investigation. Implications and limitations of the evidence and the review are discussed.
PubMed: 37792075
DOI: 10.1007/s11065-023-09607-1 -
World Journal of Pediatrics : WJP Aug 2023Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and... (Review)
Review
BACKGROUND
Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and behavioral changes. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and social interaction and by repetitive and restricted patterns of behavior, interests and activities. The aim of this review is to discuss the clinical features of the differential diagnoses of ASD that are prevalent among preschoolers, focusing on their similarities and disparities.
DATA SOURCES
The international medical literature search was conducted using PubMed and was revised regarding the subject using single and/or combined keywords as follows: differential diagnosis, preschoolers, diagnostic challenge, attention deficit hyperactivity disorder, intellectual disability, high abilities/giftedness, childhood apraxia of speech, social communication disorder, Landau-Kleffner syndrome, stereotyped movement disorder and excessive screen time.
RESULTS
We describe conditions commonly found in clinical practice, taking ASD as a reference. We addressed converging and divergent aspects of behavior, cognition, communication, language, speech, socialization, and stereotypes for the diagnosis of ASD and other disorders identified as potential differential or comorbid diagnoses.
CONCLUSIONS
The ranking and characterization of symptoms appear to be essential for better understanding the underlying common ground between children with developmental disorders and children with ASD, thus properly diagnosing and directing social, professional, or medication interventions. This detailed discussion adds to the literature since, although ASD differential diagnoses are frequently mentioned and discussed in textbooks and journal articles, they rarely occupy a prominent place as we aimed herein.
Topics: Child; Child, Preschool; Humans; Autism Spectrum Disorder; Diagnosis, Differential; Developmental Disabilities; Comorbidity; Cognition
PubMed: 36282408
DOI: 10.1007/s12519-022-00629-y -
Frontiers in Pediatrics 2023Joubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and...
BACKGROUND AND AIMS
Joubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosing JBTS. It is a clinically and genetically heterogeneous disorder involving mutations in more than 40 ciliopathy-related genes. However, long-term follow-up data are scarce, and further research is needed to determine the abundant phenotypes and genetics of this disorder. The study aimed to summarize clinical manifestations, particular appearance on cranial imaging, genetic data, and prognostic features of patients with JBTS.
METHODS
A retrospective case review of 36 cases of JBTS from May 1986 to December 2021 was performed. Clinical data of JBTS patients with development retardation and molar tooth sign on cranial imaging as the main features were analyzed. Genetic testing was performed according to consent obtained from patients and their families. The Gesell Developmental Scale was used to evaluate the intelligence level before and after treatment. The children were divided into a purely neurological JBTS (pure JBTS) group and JBTS with multi-organ system involvement group and then followed up every 3-6 months.
RESULTS
We enrolled 18 males and 18 females. Thirty-four (94.44%) cases had developmental delay, one patient (2.78%) had strabismus, and one patient (2.78%) had intermittent dizziness. There was one case co-morbid with Lesch-Nyhan syndrome. Three-quarters of cases had one or more other organ or system involvement, with a greater predilection for vision and hearing impairment. JBTS could also involve the skin. Thirty-one cases (86.11%) showed a typical molar tooth sign, and five cases showed a bat wing sign on cranial imaging. Abnormal video electroencephalogram (VEEG) result was obtained in 7.69% of cases. We found six JBTS-related gene loci variants: : c.4189 + 1G > A, c.3101T > C(p.Ile1034Thr), c.3733T > C (p.Cys1245Arg), c.4080G > A(p.Lys1360=); : c.1351-11A > G; : c.214 C > T(p.Arg72Cys). The gene may be potentially related to the occurrence of JBTS. Analysis showed that the prognosis of pure JBTS was better than that of JBTS with neurological and non-neurological involvement after the formal rehabilitation treatment ( < 0.05). Of the three children with seizures, two cases had epilepsy with a poor prognosis, and another case had breath-holding spells.
CONCLUSION
Our findings indicate that early cranial imaging is helpful for the etiological diagnosis of children with unexplained developmental delay and multiple malformations. Patients with JBTS may have coexisting skin abnormalities. The gene loci of , , and were associated with JBTS in our study and provided significant information to enrich the related genetic data. Future works investigating several aspects of the association between gene and JBTS merit further investigation. The prognosis of children with pure JBTS is better than that of children with JBTS with non-neurological involvement.
PubMed: 37547106
DOI: 10.3389/fped.2023.1102639 -
Pediatric Neurology Feb 2024Individuals with childhood apraxia of speech (CAS) were reported to have genetic variations related to gluten sensitivity and some neuroanatomic changes, which could be...
BACKGROUND
Individuals with childhood apraxia of speech (CAS) were reported to have genetic variations related to gluten sensitivity and some neuroanatomic changes, which could be associated with alterations in neurotransmitters levels such as glutamate and gamma-aminobutyric acid (GABA). The aim was to measure the levels of antigliadin immunoglobulin A (IgA) antibody, glutamate, and GABA in the plasma of children with CAS compared with children with delayed language development (DLD) and neurotypical (NT) children.
METHODS
The participants (N = 120) were in three groups: Group I for CAS (N = 30), Group II for DLD (N = 60), and Group III for NT (N = 30). The abilities of children in Groups I and II were evaluated. The plasma levels of antigliadin IgA, glutamate, and GABA were determined by enzyme-linked immunosorbent assay.
RESULTS
The intelligence quotient and expressive language age in Group I were low compared with Group II (P = 0.001; 0.004). The levels of antigliadin IgA and glutamate in Group I were higher compared with the other two groups, whereas the level of GABA was lower (P < 0.0001). An imbalance between glutamate and GABA was found in Group I. In Group II, no measures differed from NTs except lower GABA levels (P = 0.0007).
CONCLUSIONS
The elevated levels of antigliadin IgA antibody and glutamate demonstrated high sensitivity and specificity, differentiating children with CAS from children with DLD and NT children. The low levels of GABA contributed to the imbalance between the excitatory and inhibitory neurotransmitters' levels detected in children with CAS.
Topics: Child; Humans; Speech; Glutamic Acid; Apraxias; Malabsorption Syndromes; Immunoglobulin A; Glutens; gamma-Aminobutyric Acid; Neurotransmitter Agents
PubMed: 38154236
DOI: 10.1016/j.pediatrneurol.2023.11.012 -
Neuroscience and Biobehavioral Reviews Jul 2024Limb apraxia is a motor disorder frequently observed following a stroke. Apraxic deficits are classically assessed with four tasks: tool use, pantomime of tool use,... (Meta-Analysis)
Meta-Analysis Review
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.
Topics: Humans; Apraxias; Brain Mapping; Brain; Likelihood Functions; Brain Injuries; Stroke
PubMed: 38754714
DOI: 10.1016/j.neubiorev.2024.105720 -
International Journal of... Oct 2023To present the sensitivity and specificity and establish cutoff points (receiver operating characteristic [ROC] curve) for the PraxiFala Battery.
PURPOSE
To present the sensitivity and specificity and establish cutoff points (receiver operating characteristic [ROC] curve) for the PraxiFala Battery.
METHOD
The sample included 308 Brazilian-speaking children aged 3;0-7;11. Twenty-one children had motor speech disorders (MSD), 58 children had phonological disorder (PD), and 229 had typical speech (TS) development. Participants were administered the PraxiFala Battery, which contains verbal (word and sentence production), nonverbal (orofacial praxis), and diadochokinetic tasks. The sensitivity and specificity of items in each task were then calculated using ROC curves.
RESULT
Total scores on the verbal (word production), nonverbal (orofacial praxis), and diadochokinetic tasks had good sensitivity and specificity. The only scores with poor sensitivity and specificity in differentiating between TS, PD, and MSD were consistency and prosody in the verbal tasks (sentence production), and item /ta/ in the diadochokinetic task. Area under the ROC curve (AUC) values were greater than 0.7 for most items in the comparison between TS vs. MSD and PD vs. MSD. AUC values were poor or fair among children with TS and PD, suggesting that this instrument may not be accurate in identifying these groups.
CONCLUSION
The verbal, nonverbal, and diadochokinetic tasks in the PraxiFala Battery had good sensitivity and specificity.
PubMed: 37902458
DOI: 10.1080/17549507.2023.2263183 -
International Journal of Molecular... Nov 2023Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary...
Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary forms of CA is continuously growing and reveals its genetic complexity. We investigated ten cases with early-onset cerebellar involvement with and without ataxia by exome sequencing or by a targeted panel with 363 genes involved in ataxia or spastic paraplegia. Novel variants were investigated by or experimental approaches. Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: , , and . The remaining three cases deserve special attention; they harbour variants in and genes. is responsible for an ultrarare condition characterised by global developmental delay and cognitive decline; our index case added ataxia to the list of concomitant associated symptoms. is mainly related to hypomyelinating leukodystrophy; our proband presented with pure spastic paraplegia and normal intellectual capacity. Finally, in a patient who suffers from mild ataxia with oculomotor apraxia, the novel c.1120T>C variant was found. The protein expression of the mutated protein was reduced, which may indicate instability that would affect its kinase activity.
Topics: Child; Humans; Genetic Heterogeneity; Mutation; Cerebellar Ataxia; Cerebellar Diseases; Ataxia; Phenotype; Spastic Paraplegia, Hereditary; Paraplegia; Neurodegenerative Diseases; Pedigree; Atrophy; Microtubule-Associated Proteins; Membrane Proteins
PubMed: 38003592
DOI: 10.3390/ijms242216400 -
Brain Sciences May 2024Childhood apraxia of speech (CAS) represents a significant diagnostic and therapeutic challenge within the field of clinical neuropsychology, characterized by its...
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.
PubMed: 38928540
DOI: 10.3390/brainsci14060540 -
Developmental Medicine and Child... Mar 2024To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects. (Review)
Review
AIM
To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.
METHOD
This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro-ophthalmological, developmental/cognitive) and diagnostic (e.g. genetic testing, neuroimaging, systemic involvement) evaluations were collected in a data set during a review of medical records. Clinical and diagnostic variables were described in terms of raw counts and percentages. A χ test was conducted to investigate their association with neuropsychological skills.
RESULTS
Ocular motor apraxia was highly represented in our cohort (75%), with a high prevalence of refractive defects and retinal abnormalities. Developmental delay/intellectual disability was frequent (in 69.5% of the sample), associated with retinal dystrophy (p = 0.047) and reduced visual acuity both for near (p = 0.014) and for far distances (p = 0.017).
INTERPRETATION
On the basis of the relevance of oculomotor and perceptual alterations and their impact on overall and cognitive impairment, we encourage early and multidisciplinary assessment and follow-up of visual function in children with Joubert syndrome. This would help in planning a personalized rehabilitation to sustain functional vision. Further studies will be important to explore the link between biological aspects and global functioning in children with Joubert syndrome.
WHAT THIS PAPER ADDS
Perceptual deficits and oculomotor impairments frequently coexist in Joubert syndrome. Retinal dysfunction may be present despite the absence of funduscopic abnormalities. Both perceptual and oculomotor impairments negatively affect cognitive development in Joubert syndrome.
Topics: Child; Humans; Male; Infant; Cerebellum; Abnormalities, Multiple; Eye Abnormalities; Kidney Diseases, Cystic; Retina; Ocular Motility Disorders; Retrospective Studies; Cross-Sectional Studies; Magnetic Resonance Imaging
PubMed: 37593819
DOI: 10.1111/dmcn.15732