This document presents a literature review and clinical case study of a boy diagnosed with Pontocerebellar Hypoplasia (PCH). The literature review found few studies describing the cognitive, motor, communication, and linguistic profiles of individuals with PCH. The clinical case describes a 79-month-old boy with PCH who has severe intellectual disability, language disorder, and dysarthric speech based on psychological and speech assessments. Testing found difficulties in motor skills, cognition, and retaining information that impacts therapeutic progress. The family struggles with the poor prognosis and uncertainties about the future. Knowledge of these severe cases can help families and the therapeutic process.
This document summarizes a review of 50 cases of developmental apraxia of speech. The key findings include:
- Neurological exams found isolated apraxic signs in many children, suggesting speech praxis centers may be more diffuse in children's cortex compared to adults.
- Over half of the children who received EEGs showed abnormalities, including both generalized and some focal abnormalities, suggesting lesions in varied areas of cortex could cause developmental apraxia.
- Testing revealed consistent features of developmental apraxia across the children, including difficulties with oral movements and speech imitation.
Small Supernumerary Marker Chromosome (sSMC) is a rare genetic condition marked by the presence of an extra chromosome to the 46 human chromosomes. This case report describes a 4 year old child with SSMC on the 46th chromosome. The child presented with delayed speech and language development, seizures and mild developmental delay. Speech and Language evaluation was carried out and management options are discussed.
This document discusses challenges in diagnosing disorders related to dysmorphology and genetics in pediatric patients. It notes that an accurate diagnosis can be difficult due to genetic heterogeneity, environmental factors, incomplete family histories, and other issues. The document emphasizes the importance of a thorough clinical examination, family history, and integrating multiple sources of data to establish a diagnosis. It also discusses how early diagnosis can provide benefits by informing clinical management and prognosis.
ANNOTATIONManagement of childhood stutteringMark Onslow .docxjustine1simpson78276
ANNOTATION
Management of childhood stuttering
Mark Onslow and Sue O’Brian
Australian Stuttering Research Centre, The University of Sydney, Sydney, New South Wales, Australia
Abstract: Stuttering is a speech disorder that begins during the first years of life and is among the most prevalent of developmental disorders.
It appears to be a problem with neural processing of speech involving genetics. Onset typically occurs during the first years of life, shortly after
language development begins. Clinical presentation during childhood is interrupted and effortful speech production, often with rapid onset. If
not corrected during early childhood, it becomes intractable and can cause psychological, social, educational and occupational problems. There
is evidence from replicated clinical trials to support early intervention during the pre-school years. Meta-analysis of studies indicates that children
who receive early intervention during the pre-school years are 7.7 times more likely to have resolution of their stuttering. Early intervention is
recommended with a speech pathologist. Some children who begin to stutter will recover without such intervention. However, the number of
such recoveries is currently not known, and it is not possible to predict which children are likely to recover naturally. Consequently, the current
best practice is for speech pathologists to monitor children for signs of natural recovery for up to 1 year before beginning treatment.
Key words: diagnosis; management; paediatrics; stuttering; treatment.
Stuttering
Stuttering, also known as stammering in the United Kingdom,
is a speech disorder that begins during the first years of life. A
recent community cohort study of 1619 Australian children
recruited at 8 months old found that 8.5% had begun to
stutter by 3 years of age.1 The shape of the cumulative inci-
dence plot suggests that more cases will emerge as the cohort
is studied further. Onset was found to be essentially unpre-
dictable, with only 3.7% of cases explainable with case
history variables such as advanced language development,
twinning and maternal education level. A report of 3 to
17-year-olds derived from the United States National Health
Interview Surveys (n = 95,132) showed stuttering to be the
equal third most prevalent developmental disorder from
among nine, which included attention-deficit/hyperactivity
disorder, autism, cerebral palsy and learning disability.2 The
reported prevalence was 1.6%.
The cause of stuttering is currently unknown; however, brain
imaging data suggest that it involves a problem with neural
processing of speech,3 linked to structural and functional
anomalies at brain sites responsible for spoken language.4,5 As
these anomalies have only been investigated with school chil-
dren and adults, it is unclear whether they are a cause or an
effect of the disorder. There is genetic involvement in stuttering,
with clear evidence of vertical transmission within families.6
Around two th.
This document contains abstracts from 9 sources related to speech and language development and disorders in children. The abstracts cover topics such as language skills in bilingual children with cleft lip/palate, speech and language delays in children with neurofibromatosis type 1, the impact of child-directed speech, language delays in foster children, screening tools for detecting speech and language delays, outcomes for very preterm infants, early childhood vocabulary development, and issues related to diagnosing language disorders in bilingual children.
This document contains 14 abstracts from research studies and review articles on topics related to speech and language development, delays, and disorders in children. The abstracts cover a range of topics including studies comparing language skills in children with cleft lip/palate to typically developing children; assessing speech and language in children with neurofibromatosis type 1; the impact of child-directed speech; language delays in foster children; screening tools for detecting speech and language delay; and factors influencing language outcomes in preterm infants.
The impact of traumatic childhood experiences on cognitive and behavioural fu...BARRY STANLEY 2 fasd
This thesis examines the impact of traumatic childhood experiences on cognitive and behavioural functioning in children with fetal alcohol spectrum disorders (FASD). A systematic literature review found few studies have investigated dual exposure to prenatal alcohol exposure (PAE) and trauma. The author conducted four original studies: 1) a caregiver survey of adversity, empathy and behaviour; 2) a cognitive study of intelligence and executive function; 3) a neuroimaging study of prefrontal cortex activity; and 4) qualitative interviews with caregivers. The main finding was traumatic experiences may subtly impact children with FASD, especially cognitively, as they were similar to children with only FASD. Clinicians should view children with both exposures primarily as having F
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties with social interaction and communication, and restricted and repetitive behavior. The causes are both genetic and environmental. Genetically, ASD is highly heritable but heterogeneous, with many genes likely contributing. Environmentally, certain prenatal and perinatal factors like maternal infections may play a role. Neurologically, individuals with ASD often experience abnormal brain growth early in development, with increased brain volume and abnormalities in frontal, temporal and limbic regions.
This document summarizes a review of 50 cases of developmental apraxia of speech. The key findings include:
- Neurological exams found isolated apraxic signs in many children, suggesting speech praxis centers may be more diffuse in children's cortex compared to adults.
- Over half of the children who received EEGs showed abnormalities, including both generalized and some focal abnormalities, suggesting lesions in varied areas of cortex could cause developmental apraxia.
- Testing revealed consistent features of developmental apraxia across the children, including difficulties with oral movements and speech imitation.
Small Supernumerary Marker Chromosome (sSMC) is a rare genetic condition marked by the presence of an extra chromosome to the 46 human chromosomes. This case report describes a 4 year old child with SSMC on the 46th chromosome. The child presented with delayed speech and language development, seizures and mild developmental delay. Speech and Language evaluation was carried out and management options are discussed.
This document discusses challenges in diagnosing disorders related to dysmorphology and genetics in pediatric patients. It notes that an accurate diagnosis can be difficult due to genetic heterogeneity, environmental factors, incomplete family histories, and other issues. The document emphasizes the importance of a thorough clinical examination, family history, and integrating multiple sources of data to establish a diagnosis. It also discusses how early diagnosis can provide benefits by informing clinical management and prognosis.
ANNOTATIONManagement of childhood stutteringMark Onslow .docxjustine1simpson78276
ANNOTATION
Management of childhood stuttering
Mark Onslow and Sue O’Brian
Australian Stuttering Research Centre, The University of Sydney, Sydney, New South Wales, Australia
Abstract: Stuttering is a speech disorder that begins during the first years of life and is among the most prevalent of developmental disorders.
It appears to be a problem with neural processing of speech involving genetics. Onset typically occurs during the first years of life, shortly after
language development begins. Clinical presentation during childhood is interrupted and effortful speech production, often with rapid onset. If
not corrected during early childhood, it becomes intractable and can cause psychological, social, educational and occupational problems. There
is evidence from replicated clinical trials to support early intervention during the pre-school years. Meta-analysis of studies indicates that children
who receive early intervention during the pre-school years are 7.7 times more likely to have resolution of their stuttering. Early intervention is
recommended with a speech pathologist. Some children who begin to stutter will recover without such intervention. However, the number of
such recoveries is currently not known, and it is not possible to predict which children are likely to recover naturally. Consequently, the current
best practice is for speech pathologists to monitor children for signs of natural recovery for up to 1 year before beginning treatment.
Key words: diagnosis; management; paediatrics; stuttering; treatment.
Stuttering
Stuttering, also known as stammering in the United Kingdom,
is a speech disorder that begins during the first years of life. A
recent community cohort study of 1619 Australian children
recruited at 8 months old found that 8.5% had begun to
stutter by 3 years of age.1 The shape of the cumulative inci-
dence plot suggests that more cases will emerge as the cohort
is studied further. Onset was found to be essentially unpre-
dictable, with only 3.7% of cases explainable with case
history variables such as advanced language development,
twinning and maternal education level. A report of 3 to
17-year-olds derived from the United States National Health
Interview Surveys (n = 95,132) showed stuttering to be the
equal third most prevalent developmental disorder from
among nine, which included attention-deficit/hyperactivity
disorder, autism, cerebral palsy and learning disability.2 The
reported prevalence was 1.6%.
The cause of stuttering is currently unknown; however, brain
imaging data suggest that it involves a problem with neural
processing of speech,3 linked to structural and functional
anomalies at brain sites responsible for spoken language.4,5 As
these anomalies have only been investigated with school chil-
dren and adults, it is unclear whether they are a cause or an
effect of the disorder. There is genetic involvement in stuttering,
with clear evidence of vertical transmission within families.6
Around two th.
This document contains abstracts from 9 sources related to speech and language development and disorders in children. The abstracts cover topics such as language skills in bilingual children with cleft lip/palate, speech and language delays in children with neurofibromatosis type 1, the impact of child-directed speech, language delays in foster children, screening tools for detecting speech and language delays, outcomes for very preterm infants, early childhood vocabulary development, and issues related to diagnosing language disorders in bilingual children.
This document contains 14 abstracts from research studies and review articles on topics related to speech and language development, delays, and disorders in children. The abstracts cover a range of topics including studies comparing language skills in children with cleft lip/palate to typically developing children; assessing speech and language in children with neurofibromatosis type 1; the impact of child-directed speech; language delays in foster children; screening tools for detecting speech and language delay; and factors influencing language outcomes in preterm infants.
The impact of traumatic childhood experiences on cognitive and behavioural fu...BARRY STANLEY 2 fasd
This thesis examines the impact of traumatic childhood experiences on cognitive and behavioural functioning in children with fetal alcohol spectrum disorders (FASD). A systematic literature review found few studies have investigated dual exposure to prenatal alcohol exposure (PAE) and trauma. The author conducted four original studies: 1) a caregiver survey of adversity, empathy and behaviour; 2) a cognitive study of intelligence and executive function; 3) a neuroimaging study of prefrontal cortex activity; and 4) qualitative interviews with caregivers. The main finding was traumatic experiences may subtly impact children with FASD, especially cognitively, as they were similar to children with only FASD. Clinicians should view children with both exposures primarily as having F
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties with social interaction and communication, and restricted and repetitive behavior. The causes are both genetic and environmental. Genetically, ASD is highly heritable but heterogeneous, with many genes likely contributing. Environmentally, certain prenatal and perinatal factors like maternal infections may play a role. Neurologically, individuals with ASD often experience abnormal brain growth early in development, with increased brain volume and abnormalities in frontal, temporal and limbic regions.
Articles bonuck-sleep disordered-breathing-1 (1)Claire Ferrari
This study examined the relationship between sleep-disordered breathing (SDB) in early childhood and behavioral outcomes later in childhood using data from a large UK cohort study. SDB symptoms were assessed via parent reports at multiple time points between ages 6 months and 7 years. Cluster analysis identified distinct trajectories of SDB symptoms. Higher SDB symptom clusters predicted increased odds of problematic behavior, such as hyperactivity and conduct problems, at ages 4 and 7 years, even after controlling for potential confounding factors. Early SDB symptoms appeared to have long-lasting effects on behavior into middle childhood. The findings suggest that SDB symptoms in infancy and early childhood may warrant clinical attention and intervention.
Effects of Hyperbaric Oxygen Therapy on Brain Perfusion, Cognition and Behavi...BARRY STANLEY 2 fasd
Abstract
A 15-year-old girl diagnosed with FASD underwent 100 courses of hyperbasic oxygen therapy (HBOT). Prior to HBOT, single motion emission compute tomographic begin imaging (SPECT)
revealed areas of hypo-perfusion bilaterally in the orbitofrontal region, temporal lobes and right dorsolateral—frontal, as well the medial aspect of the left cerebellum. Following two sets of HBOT treatments (60 plus 40), over 6 months, there was improvement in perfusion to the left cerebellum as well as the right frontal lobe. This was paralleled by improvement in immediate cognitive tests and an increase in functional brain volume. A follow-up 18 months after HBOT showed sustained
improvement in attention with no need for methylphenidate, as well as in math skills and writing.
This research aimed to develop the Fetal Alcohol Behavior Scale (FABS) to describe the behavioral characteristics of fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE) regardless of age, race, sex, or IQ. A reference sample of 472 diagnosed patients was used. Five studies were conducted: 1) the Derivation Study developed the 36-item FABS scale from a 68-item Personal Behaviors Checklist, 2) the Detection Study used the FABS to identify inmates with prenatal alcohol exposure, 3) the Normative Study assessed the FABS in a non-clinical sample, 4) the Test-Retest Study evaluated the FABS stability over time, and 5) the Prediction Study
Sleep Health Issues for Children with FASD: Clinical ConsiderationsBARRY STANLEY 2 fasd
This document discusses sleep health issues for children with fetal alcohol spectrum disorders (FASD). Children with FASD frequently experience severe and persistent sleep disturbances that can negatively impact daily activities, cognition, behavior, health, and management. However, few health professionals are familiar with both FASD and sleep disorders. The types of sleep disorders seen in children with FASD are similar to those seen in children with other forms of severe cognitive impairment and brain damage, such as difficulties falling asleep, frequent night awakenings, and early morning wakings. Effective treatment of sleep issues is important for children with FASD, yet comprehensive information on managing their sleep disturbances is lacking.
Autism is characterized by impairment in verbal and nonverbal communication, imaginative activity, and reciprocal social interactions. It is much more common in males than females. The cause of autism is multifactorial. Early measurable diagnostic symptoms include poor eye contact, little symbolic play, limited joint attention, reliance on nonverbal communication, and delay in use of words. Considerable advances have been made in treatments for autism, especially educational, psychosocial, and biological approaches. Treatment is most successful when tailored to an individual's behaviors and language.
Fetal Alcohol Spectrum Disorder is a clinical condition that has aroused the interest of researchers as it is considered relatively common in the population, with an incidence of approximately 10 cases per 1,000 births. The neurodevelopmental changes that characterize the phenotype of this condition are described by deficits in memory, attention, visual-spatial and executive function, learning disabilities and the presence of spoken language impairment. Considering the language deficit as part of Fetal Alcohol Spectrum Disorder, we proposed to review the literature to identify which procedures are used in the assessment of language and findings reported in language in Fetal Alcohol Spectrum Disorder. The 21 articles selected in this review reflect variability in methodology and commonly used procedures assessment of spoken language. The spoken language profile of individuals diagnosed with Fetal Alcohol Spectrum Disorder is characterized by different performance and with varying degrees of impairment. Several factors influence the variability of spoken language impairment described in Fetal Alcohol Spectrum Disorders, and the amount of alcohol consumed, the gestation period when consumption took place and individual susceptibility of each fetus to metabolize alcohol in the body are often described
TRANSDISCIPLINARY APPROACH TO SPEECH THERAPY WITH CHILDREN WITH ALALIASubmissionResearchpa
The article discloses the practical side of the transdisciplinary approach in speech therapy work and rehabilitation of children with alalia. In diagnosing speech disorders, the author believes that the behavior of children with alalia is closely related to the physiological activity of the brain, that diagnosis of speech disorders based on EEG and neuropsychological methods, as well as knowledge of the insufficiency of individual brain structures, which is supported by data from electroencephalographic research, are important for speech therapists in complex rehabilitation. Binaural therapy (individual alpha balance correction program) was used for children after EEG diagnosis of their dominant alpha rhythm, which matched their dominant rhythm in the selected time interval by Karimova Shoira Tursunovna 2020. TRANSDISCIPLINARY APPROACH TO SPEECH THERAPY WITH CHILDREN WITH ALALIA. International Journal on Integrated Education. 3, 8 (Sep. 2020), 238-241. DOI:https://doi.org/10.31149/ijie.v3i8.574 https://journals.researchparks.org/index.php/IJIE/article/view/574/549 https://journals.researchparks.org/index.php/IJIE/article/view/574
Kemampuan Berkomunikasi pada Rett Syndrome (Jurnal)Elya Afifah
This case report describes the communication abilities of a 4-year-old girl with Rett syndrome. Prior to regression around 18 months, the girl had normal speech and language development with a 3-word vocabulary. Regression occurred in stages, with loss of hand function and cognitive skills declining to a 6-7 month developmental level by age 2 years 7 months. After regression, the girl was mostly nonverbal but would vocalize and maintain eye contact during social interactions. The report aims to provide a detailed description of her current communication abilities, focusing on intentionality and functionality rather than just lists of words.
- The document discusses a retrospective study of 27 children referred for suspected sleep-disordered breathing who were found to have non-syndromic short lingual frenulums.
- The children showed anatomical changes associated with enlarged tonsils and abnormal orofacial growth. Treatment including tonsillectomy, frenectomy, and orthodontics improved but did not fully resolve abnormal breathing.
- Short lingual frenulums can impair orofacial development early in life by altering tongue position, leading to increased risk of sleep disordered breathing. Early recognition and treatment of short frenulums may improve normal development.
This article discusses the diagnosis and treatment of Asperger's syndrome using the case of a 15-year-old male patient, Marc. It reviews the history and diagnostic criteria of Asperger's, compares it to high-functioning autism, examines comorbid conditions, and discusses evidence-based assessment and treatment recommendations. The key recommendations are for early diagnosis and intervention focusing on enhancing social skills through individualized education programs tapping into special interests.
This document provides an overview of autism spectrum disorder (ASD). It discusses the epidemiology, etiology, classification, course, prognosis, and treatment of ASD. Some key points include:
- ASD is a neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors.
- The prevalence of ASD is approximately 1 in 160 children worldwide. Boys are diagnosed with ASD 4 times more often than girls.
- The causes of ASD are complex and not fully understood but likely involve both genetic and environmental factors.
- Treatment aims to reduce disruptive behaviors and promote skills in areas like language, communication, and self-care. Educational, pharmacological, and psychosocial approaches
Preprint of:
Bishop, D. V. M. (2004). Specific language impairment: diagnostic dilemmas. In L. Verhoeven & H. Van Balkom (Eds.), Classification of Developmental Language Disorders (pp. 309-326). Mahwah, NJ.: Erlbaum.
Bone age radiographs can provide information about a child's adult height potential and exposure to sex steroids if their bone age is advanced compared to their chronological age. Children with familial short stature usually have a normal bone age, while those with constitutional delay of growth usually have delayed bone age. The cause of failure to thrive is nonorganic in the majority of patients, and extensive lab evaluation should be deferred until outpatient dietary management has been tried. Regular, periodic developmental screening using tools such as PEDS, ASQ, or M-CHAT can help identify developmental delays or risks. Key motor, cognitive, and language milestones include the ability to sit independently by 9 months and speak in 3 word sentences by 36 months
Down syndrome is a genetic condition where a child is born with an extra chromosome, usually chromosome 21. This extra genetic material causes delays in physical and cognitive development. Children with Down syndrome often have characteristic facial features and may experience various medical issues. Development is slower in areas such as language, motor skills, and cognitive abilities compared to typically developing children. Early childhood educators need to be aware of these delays and adapt programs, activities, and communication to support the individual needs and abilities of each child with Down syndrome.
Role of Speech Therapy in Overcoming Lexical Deficit in Adult Broca’s Aphasia
Tanzeela Abid & Dr. Habibullah Pathan,
English Language Development Centre, Faculty of Science, Technology and Humanities, Mehran University of Engineering and Technology, Pakistan
This is an exploratory study and qualitative in nature. Unit of exploration is ‘Adult Broca’s Aphasic Patients.’ This paper aims to explore the function and integrity of ‘Speech Therapy’ for adult Broca’s aphasia. Aphasia is the after-effect of brain damage, commonly found in left hemisphere which disrupts language faculty. The present study focuses on ‘Lexical’ aspect of language in which an individual faces trouble in processing of words. In Broca’s aphasia affected individual suffers from diminished capability of speaking/communication. To recover such diminished capabilities, speech therapy is utilized. This study intends to investigate the effectiveness of speech therapy that how speech therapy helps to adult Broca’s aphasia to recover their speaking or conversing skills? Participants of the study are ‘Speech therapists.’ Purposeful sampling, particularly Snowball sampling has been undertaken. Semi-structured interviews have been conducted from five speech therapists, which have been analyzed through thematic analysis under the light of ‘Sketch Model’ given by De ruiter and De beer (2013). The Findings of the study suggest that speech therapy may be proved helpful for Broca’s aphasia to recover their communicating capabilities but it requires much time (minimum 6 months). Moreover, recovery depends upon certain factors such as age, level of disorder and willingness.
Keywords: Broca’s Aphasia, Lexical Deficit, Speech Therapy, Communication, Speaking Skills
The Sixth International Conference on Languages, Linguistics, Translation and Literature
9-10 October 2021 , Ahwaz
For more information, please visit the conference website:
WWW.LLLD.IR
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The impact of the SARS-CoV-2 infection in all areas at the national and international level is undeniable, the aftermath of this “tornado” will be visible for a long time, even when the infection manages to be controlled. Two aspects of great interest to those of us who work in the area of oncology must be considered: on the one hand, the need to contain and control the devastating effects of the disease forced a reorganization in the operation of services, giving priority to COVID, conversion of medical units to hospitals COVID created a high-risk scenario for patients with other types of pathologies; This reorganization includes the allocation of large amounts of budget to COVID areas to the detriment of patients with other types of equally serious diseases - such as cancer, among others - who cannot wait for care in better times.
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Fetal Alcohol Spectrum Disorder is a clinical condition that has aroused the interest of researchers as it is considered relatively common in the population, with an incidence of approximately 10 cases per 1,000 births. The neurodevelopmental changes that characterize the phenotype of this condition are described by deficits in memory, attention, visual-spatial and executive function, learning disabilities and the presence of spoken language impairment. Considering the language deficit as part of Fetal Alcohol Spectrum Disorder, we proposed to review the literature to identify which procedures are used in the assessment of language and findings reported in language in Fetal Alcohol Spectrum Disorder. The 21 articles selected in this review reflect variability in methodology and commonly used procedures assessment of spoken language. The spoken language profile of individuals diagnosed with Fetal Alcohol Spectrum Disorder is characterized by different performance and with varying degrees of impairment. Several factors influence the variability of spoken language impairment described in Fetal Alcohol Spectrum Disorders, and the amount of alcohol consumed, the gestation period when consumption took place and individual susceptibility of each fetus to metabolize alcohol in the body are often described
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- The children showed anatomical changes associated with enlarged tonsils and abnormal orofacial growth. Treatment including tonsillectomy, frenectomy, and orthodontics improved but did not fully resolve abnormal breathing.
- Short lingual frenulums can impair orofacial development early in life by altering tongue position, leading to increased risk of sleep disordered breathing. Early recognition and treatment of short frenulums may improve normal development.
This article discusses the diagnosis and treatment of Asperger's syndrome using the case of a 15-year-old male patient, Marc. It reviews the history and diagnostic criteria of Asperger's, compares it to high-functioning autism, examines comorbid conditions, and discusses evidence-based assessment and treatment recommendations. The key recommendations are for early diagnosis and intervention focusing on enhancing social skills through individualized education programs tapping into special interests.
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- ASD is a neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors.
- The prevalence of ASD is approximately 1 in 160 children worldwide. Boys are diagnosed with ASD 4 times more often than girls.
- The causes of ASD are complex and not fully understood but likely involve both genetic and environmental factors.
- Treatment aims to reduce disruptive behaviors and promote skills in areas like language, communication, and self-care. Educational, pharmacological, and psychosocial approaches
Preprint of:
Bishop, D. V. M. (2004). Specific language impairment: diagnostic dilemmas. In L. Verhoeven & H. Van Balkom (Eds.), Classification of Developmental Language Disorders (pp. 309-326). Mahwah, NJ.: Erlbaum.
Bone age radiographs can provide information about a child's adult height potential and exposure to sex steroids if their bone age is advanced compared to their chronological age. Children with familial short stature usually have a normal bone age, while those with constitutional delay of growth usually have delayed bone age. The cause of failure to thrive is nonorganic in the majority of patients, and extensive lab evaluation should be deferred until outpatient dietary management has been tried. Regular, periodic developmental screening using tools such as PEDS, ASQ, or M-CHAT can help identify developmental delays or risks. Key motor, cognitive, and language milestones include the ability to sit independently by 9 months and speak in 3 word sentences by 36 months
Down syndrome is a genetic condition where a child is born with an extra chromosome, usually chromosome 21. This extra genetic material causes delays in physical and cognitive development. Children with Down syndrome often have characteristic facial features and may experience various medical issues. Development is slower in areas such as language, motor skills, and cognitive abilities compared to typically developing children. Early childhood educators need to be aware of these delays and adapt programs, activities, and communication to support the individual needs and abilities of each child with Down syndrome.
Role of Speech Therapy in Overcoming Lexical Deficit in Adult Broca’s Aphasia
Tanzeela Abid & Dr. Habibullah Pathan,
English Language Development Centre, Faculty of Science, Technology and Humanities, Mehran University of Engineering and Technology, Pakistan
This is an exploratory study and qualitative in nature. Unit of exploration is ‘Adult Broca’s Aphasic Patients.’ This paper aims to explore the function and integrity of ‘Speech Therapy’ for adult Broca’s aphasia. Aphasia is the after-effect of brain damage, commonly found in left hemisphere which disrupts language faculty. The present study focuses on ‘Lexical’ aspect of language in which an individual faces trouble in processing of words. In Broca’s aphasia affected individual suffers from diminished capability of speaking/communication. To recover such diminished capabilities, speech therapy is utilized. This study intends to investigate the effectiveness of speech therapy that how speech therapy helps to adult Broca’s aphasia to recover their speaking or conversing skills? Participants of the study are ‘Speech therapists.’ Purposeful sampling, particularly Snowball sampling has been undertaken. Semi-structured interviews have been conducted from five speech therapists, which have been analyzed through thematic analysis under the light of ‘Sketch Model’ given by De ruiter and De beer (2013). The Findings of the study suggest that speech therapy may be proved helpful for Broca’s aphasia to recover their communicating capabilities but it requires much time (minimum 6 months). Moreover, recovery depends upon certain factors such as age, level of disorder and willingness.
Keywords: Broca’s Aphasia, Lexical Deficit, Speech Therapy, Communication, Speaking Skills
The Sixth International Conference on Languages, Linguistics, Translation and Literature
9-10 October 2021 , Ahwaz
For more information, please visit the conference website:
WWW.LLLD.IR
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Combination Therapies
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Chemotherapy
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Demystifying Fallopian Tube Blockage- Grading the Differences and Implication...
Pontocerebellar Hypoplasia: Literature Review and Clinical Study
1. Annals of Clinical and Medical
Case Reports
ISSN 2639-8109
Research Article
Pontocerebellar Hypoplasia: Literature Review and Clinical Study
Rosa DCB¹*
, Azambuja DAR¹, Crenitte PAP¹, Tabaqim MLM¹, Lamonica DAC¹ and Hage SV¹
¹Department of Speech Hearing and Language Disorders, Faculdade de Odontologia de Bauru, Universidade de São Paulo (FOB-USP),
Brazil
2. Key words
Pontocerebellar hypoplasia; Lan-
guage; Cerebellar abnormalities;
Speech language disorders
3. Introduction
1. Abstract
Pontocerebellar Hypoplasia (PCH) refers to a group of rare, progressive, and hereditary neurode-
generative disorders with prenatal onset. Different subtypes have been identified based on the mu-
tations present, and all share common characteristics, such as severe cognitive, linguistic, and motor
disabilities. The objective of this study was to conduct a literature review and describe the clinical
case of a 79-month-old boy diagnosed with PCH in terms of cognitive, motor, communicative, and
linguistic skills. We also report the implications of the results on the therapeutic process and family
homeostasis, as well as our reflections on the matter. Four articles that met the inclusion criteria set
by the study were added to the review. The results of the psychological and speech therapy assessment
indicate intellectual disability, severe language disorder, and dysarthric speech. Knowledge regarding
the severity of these cases and the implications for the family of afflicted individuals when the clinical
prognosis is uncertain, can contribute to the therapeuticprocess.
ment of the patient. Additionally, currently no studies present the
Pontocerebellar hypoplasia (PCH) refers to a group of progressive,
severe, and rare neurodegenerative disorders with prenatal onset
that affect the development and function of the brainstem and cer-
ebellum, resulting in developmental disorders [1-3]. It is a geneti-
cally heterogeneous autosomal recessive condition [4-7]. PCH is a
purely descriptive term that implies a reduced volume of the bridge
and cerebellum [5].
As of January 2020, 13 PCH subtypes have been recorded in the
OMIM Portal [5]. The incidence rate of each subtype is unknown
[6, 7].
The disorder has only symptomatic treatment available and has a
poor prognosis. Additionally, life expectancy is difficult to deter-
mine, since death can occur at any point of development. Typically,
however, patients die in late childhood or adolescence, according
to most of the cases mentioned, although there is a possibility of
survival until adulthood [6].
Descrições neurorradiológicas e genéticas são encontradas na li-
teratura [1-14], porém com poucas informações sobre a evolução
desses casos em relação ao neurodesenvolvimento e aprendizado.
Some studies report severe changes in motor development, micro-
cephaly, motor and cognitive disorders [2, 5-9]. Despite the exis-
tence of descriptions of signs and symptoms in these areas, there
are limited data available on the characterization of the develop-
*Corresponding Author (s): Deborah Cristine Bonetti Rosa, Department of Speech
Hearing and Language Disorders, Faculdade de Odontologia de Bauru, Universidade de São
Paulo (FOB-USP), Al. Dr. Octávio Pinheiro Brisolla, 9-7 5; Bauru (SP), Brazil, Tele: (+55
014) 99897-7379, Email: deborah.bonetti7@gmail.com
phenotypic profiles of the disorder in terms of global development
and communication. The families of patients with rare and severe
disorders deal with the uncertainties of the future and the poor
prognoses, which can cause additional suffering and difficulties in
adhering to the therapeutic process[15].
In view of the above, the objective of this study was to conduct a
literature review and describe the clinical case of a 79-month-old
boy diagnosed with PCH, particularly in terms of cognitive, mo-
tor, communicative, and linguistic skills, as well as to report the
implications of the results on the therapeutic process, as well as on
family homeostasis.
4. Materials and Methods
Two bibliographic searches were carried out to find studies de-
scribing developmental skills and/or phenotypic profiles of cog-
nitive, motor, communicative, and linguistic skills in individuals
with PCH. The searches were performed in national and interna-
tional databases: Lilacs, PubMed, Scopus, Scielo, Web of Science,
and EMBASE. The descriptors were selected after consulting the
Health Sciences Descriptors (DeCS-BVS). The survey period cov-
ers 2000-2020.
The descriptors were as follows: pontocerebellar hypoplasia OR
cerebellar hypoplasia, AND (Language OR Cognition OR Cogni-
tion Disorders OR Speech OR Language Development Disorders
AuthorContributions:RosaDCB,AzambujaDAR,CrenittePAP,TabaqimMLM,Lamonica
DAC, Hage SV, These authors have contributed equally to this article.
Citation: Rosa DCB. Pontocerebellar Hypoplasia: Literature Review and Clinical Study.
Annals of Clinical and Medical Case Reports. 2020; 4(8): 1-4.
Volume 4 Issue 8- 2020
Received Date: 07 Aug2020
Accepted Date: 19 Aug2020
Published Date: 24 Aug2020
3. Volume 4 Issue 8-2020 ResearchArticle
http://www.acmcasereport.com/ 3
the inclusion criteria are shown in (Figure 2).
Figure 2: Results of the analysis using the inclusion criteria
Note: Adapted from: Moher D, Liberati A, Tetzlaff J, Altman DG,
PRISMA Group. Preferred reporting items for systematic reviews
andmeta-analyzes:thePRISMAStatement.PLoSMed.2015;6(7):
e1000097. doi: 0.5123 / S1679-49742015000200017
Chart 1 presents the results of the literature review, with the studies
that reported information on clinical characteristics and commu-
nication skills of individuals with PCH (Chart1).
Chart1:Articlesincludedinthestudythatreportinformationoncognition,motor,
language and communication
Included Articles Development data
Qian et. al (2014) (11)
- Cerebellar ataxia
- Unsteady gait and a tendency to fall, accompanied
by signs of dysphagia with liquids (coughing while
drinking) speech problems (slurred speech) ).
Sonmez et. al (2013) (12)
- Intellectual disability;
- Monotonous voice and unintelligible vocalizations; -
Speak with isolated words
- Short and unsteady gait
Steinlin et. al. (2007) (13)
- Movement disorder and developmental delay
- Breathing and / or suction problems during the
neonatal period
- The children analyzed showed inability to sit, walk or
talk (there was no speech development - vocalization
of sounds only in one child).
- Non-verbal social communication
- Hearing deficiency
Laugwitz et al. (2020) (14)
Global psychomotor deficits, involving gross and fine
motor skills, as well as language development. Ataxic
march. Vocalization of isolated words. Dysphagia.
ADHD. The signs of regression and stagnation were
noticed until the age of 12.
8. Language and Communication
Table 1 presents the results obtained in the speech and language as-
sessment using the following instruments: ADL: Language Acqui-
sition and Development [16], Denver-II Development Screening
Test [17], MacArthur Inventory [18]; Nonverbal Intelligence Test
(SON-R)[19]; Columbia Mental Maturity Test [20]; and Pré-WISC
[21] (Table 1).
Table 1 - Results of tests applied to speech and psychological assessment
Speech Therapy Evaluation
Assessment tools Results
ADL Scores below EP 69: Severe language disorder
DENVER – II
Language 30 months
Coarse motor 36 months
Fine-adaptive motor 30 months
Personal-social 36 months
MacArthur Inventory Can name objects, people's names and simple action verbs
Behavior observation
Speaks words alone - uses nouns and verbs. Tell facts from
concrete contexts with simple sentences, without using low
semantic words. There is distortion in speech, characterized as a
dysarthric condition.
Psychological Assessment
Nonverbal Intelligence
Test (SON-R)
It presents diffuse involvement of the various functions, causing
fundamental difficulty in learning and developing, mainly,
conceptual abilities. Picture suggestive of intellectual disability,
of non-specific severity, for associating cognitive deficits and
adaptive behavior, that is, distortion in the chronology, in
the rhythm and in the sequence of the basic functions for its
development, impairing the efficiency in reaching the expected
standards for its age and cultural group, in areas such as: social
skills, communication / language, personal independence,
responsibilities and self-sufficiency.
Columbia Mental
Maturity Test
Pré-WISC
9. Discussion
The literature review on the subject of Pontocerebellar Hypopla-
sia (PCH) presents studies mostly related to the neurological, ra-
diological, and genetic evaluation of the condition, generally de-
scribing anatomical measurements, mutations [1-10], and general
characteristics of the different PCH subtypes [1-13]. Many of these
refer to clinical case studies [1,8-11].
In the present case, the clinical picture and the progression of the
symptoms indicate the possibility of PCH11. This suggests the
need for a genetic examination; however, the family is yet to ac-
complish this. Rudnik-Schonebom et al. [2] stated that the differ-
ential diagnosis of PCH is a challenge, considering its early onset
and unspecific clinical presentations. Rüsch et al. [5] showed that a
systematic analysis of images and clinical characteristics could aid
in the differential diagnosis.
Van Dijk et al. [6] revealed that new genes and phenotypes relat-
ed to PCH have been described through the use of state-of-the-art
sequencing techniques, and that the classification of the types pre-
sented in literature is still confusing, given the heterogeneity of the
disorder. They reported that there exist several patients with PCH,
who do not possess mutations in any of the genes related toPCH.
There are clear descriptions regarding the disease progression of
the different PCH types in literature [1-12], except for PCH8 and
PCH11. According to the articles compiled [1-9], the manifesta-
tions in the linguistic and communicative cognitive areas that are
commonly reported involve phenotypes associated with cognitive
and behavioral changes, in addition to delays in and/or loss of mo-
tor skills, as well as difficulties in maintaining therapeutic gains,
given the progressive nature of thedisorder.
4. Volume 4 Issue 8-2020 ResearchArticle
http://www.acmcasereport.com/ 4
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