Speech and language are uniquely human-specific traits that have contributed to humans becoming the predominant species on earth from an evolutionary perspective. Disruptions in human speech and language function may result in diverse disorders, including stuttering, aphasia, articulation disorder, spasmodic dysphonia, verbal dyspraxia, dyslexia, and specific language impairment (SLI). These disorders often cluster within a family, and this clustering strongly supports the hypothesis that genes are involved in human speech and language functions. For several decades, multiple genetic studies, including linkage analysis and genomewide association studies, were performed in an effort to link a causative gene to each of these disorders, and several genetic studies revealed associations between mutations in specific genes and disorders such as stuttering, verbal dyspraxia, and SLI. One notable genetic discovery came from studies on stuttering in consanguineous Pakistani families; these studies suggested that mutations in lysosomal enzyme-targeting pathway genes (GNPTAB, GNPTG, and NAPGA) are associated with non-syndromic persistent stuttering. Another successful study identified FOXP2 in a Caucasian family affected by verbal dyspraxia. Furthermore, an abnormal ultrasonic vocalization pattern (USV) was observed in knock-in (KI) and humanized mouse models carrying mutations in the FOXP2 gene. Although studies have increased our understanding of the genetic causes of speech and language disorders, these genes can only explain a small fraction of all disorders in patients. In this paper, we summarize recent advances and future challenges in an effort to reveal the genetic causes of speech and language disorders in animal models.
Animals ; Aphasia ; Apraxias ; Articulation Disorders ; Dyslexia ; Dysphonia ; Humans ; Language Disorders* ; Mice ; Models, Animal ; Stuttering ; Ultrasonics

OBJECTIVE: To analyze speech and linguistic features in children with articulation disorder characterized by consonant and vowel phonological errors. METHODS: Between February 2007 and June 2015, 117 children who showed articulation disorder were selected for the study. Based on comprehensive speech and language assessments, the subjects were classified into articulation dysfunction (AD), or AD overlapping with language delay. Detailed information of articulation, including percentage of consonants correct (PCC) and normal percentage of variable consonants derived from the Assessment of Phonology and Articulation for Children test, were compared between the two groups. RESULTS: Totally, 55 children were diagnosed as AD and 62 as AD with language delay. Mean PCC was not significantly different between the two groups. In both groups, the acquisition order of consonants followed the universal developmental sequence. However, differences were observed in the nasal & plosive consonants abnormality between the two groups. When adjusted to their delayed language level in AD with language delay group, 53% of children had appropriate articulation function for their expressive language level. CONCLUSION: Speech and linguistic characteristics in children with articulation disorder were variable. Therefore, comprehensive assessment is required in children with inaccurate pronunciation, and a proper treatment plan based on the results of assessment should be followed.
Articulation Disorders* ; Child* ; Humans ; Language Development Disorders ; Linguistics*

OBJECTIVE: To evaluate correlations between values of articulation tests and language tests for children with articulation disorder in Korea. METHODS: Data of outpatients with chief complaint of an articulation problem were retrospectively collected. Patients who underwent Urimal Test of Articulation and Phonation (U-TAP) with Assessment of Phonology and Articulation for Children (APAC), Preschool Receptive-Expressive Language Scale (PRES), or Receptive and Expressive Vocabulary Test (REVT) simultaneously were identified. Patients whose word-level percentages of correct consonants in U-TAP (UTAP_wC) were more than 2 standard deviations below the mean as diagnostic criteria for articulation disorder were selected. Those whose receptive language age (P_RLA), expressive language age (P_ELA), or combined language age (P_CLA) in PRES was delayed more than 24 months compared to their chronological age in months as diagnostic criteria for language disorder were excluded. RESULTS: Thirty-three children aged 3–6 years were enrolled retrospectively. PRES and U-TAP showed significant correlations for most of value relationships. PRES and APAC showed significant correlations for all value relationships except for receptive language age. All values of REVT were significantly correlated with all values from U-TAP, but not with any value from APAC. Articulation tests U-TAP and APAC showed significant correlations between percentages of correct consonants. Language tests PRES and REVT showed significant correlations for all value relationships. CONCLUSION: This study suggests that articulation abilities and language abilities might be correlated in children with articulation disorder.
Articulation Disorders ; Child ; Humans ; Korea ; Language ; Language Disorders ; Language Tests ; Outpatients ; Phonation ; Retrospective Studies ; Speech Articulation Tests ; Speech Disorders

OBJECTIVETo explore the clinical characteristics and speech therapy of 62 children with lingua-apical articulation disorder.

METHODSPeabody Picture Vocabulary Test (PPVT), Gesell development scales (Gesell), Wechsler Intelligence Scale for Preschool Children (WPPSI) and speech test were performed for 62 children at the ages of 3 to 8 years with lingua-apical articulation disorder. PPVT was used to measure receptive vocabulary skills. GESELL and WPPSI were utilized to represent cognitive and non-verbal ability. The speech test was adopted to assess the speech development. The children received speech therapy and auxiliary oral-motor functional training once or twice a week. Firstly the target sound was identified according to the speech development milestone, then the method of speech localization was used to clarify the correct articulation placement and manner. It was needed to change food character and administer oral-motor functional training for children with oral motor dysfunction.

RESULTSThe 62 cases with the apical articulation disorder were classified into four groups. The combined pattern of the articulation disorder was the most common (40 cases, 64.5%), the next was apico-dental disorder (15 cases, 24.2%). The third was palatal disorder (4 cases, 6.5%) and the last one was the linguo-alveolar disorder (3 cases, 4.8%). The substitution errors of velar were the most common (95.2%), the next was omission errors (30.6%) and the last was absence of aspiration (12.9%). Oral motor dysfunction was found in some children with problems such as disordered joint movement of tongue and head, unstable jaw, weak tongue strength and poor coordination of tongue movement. Some children had feeding problems such as preference of eating soft food, keeping food in mouths, eating slowly, and poor chewing. After 5 to 18 times of therapy, the effective rate of speech therapy reached 82.3%.

CONCLUSIONThe lingua-apical articulation disorders can be classified into four groups. The combined pattern of the articulation errors is the most common one. Most of the apical sounds are replaced by velar sounds. The speech localization method is very useful in the therapy of apical articulation disorder. For children with feeding problems and oral motor dysfunction, it is needed to improve food texture and administer oral motor skill training.

Articulation Disorders ; classification ; complications ; therapy ; Child ; Child Development ; Child, Preschool ; Feeding and Eating Disorders of Childhood ; complications ; therapy ; Humans ; Intelligence Tests ; Language Tests ; Motor Skills Disorders ; therapy ; Speech Therapy

Transcorticamrnotro aphasia is(TMA) a syndrome of nonfluent aphasia with good comprehension and preserved repetition. Language profiles and CT or MRI anatomy in 6 cases of TMA were studied. Their speech was characterized by impaired spontaneous speech and naming with well preserved comprehension and excellent repetition. Most of cases(4/6) had a tendency to repeat everything slavishly, namely echolalia. Perseveration was also common feature(4/6). Four patients showed quick recovery within a few weeks so as to communicate without much difficulty in daily living. The findings on computerized tomography(CT) and magnetic resonance maging(MRI) revealed that the main lesion sites were in the supplementary motor area(SMA) or in the subcortical white matter connecting between SMA and frontal perisylvian zone of Broca's area.
Aphasia ; Aphasia, Broca* ; Comprehension ; Echolalia ; Humans ; Magnetic Resonance Imaging

BACKGROUND AND PURPOSE: To analyze 18F-THK5351 positron emission tomography (PET) scans of patients with clinically diagnosed nonfluent/agrammatic variant primary progressive aphasia (navPPA). METHODS: Thirty-one participants, including those with Alzheimer's disease (AD, n=13), navPPA (n=3), and those with normal control (NC, n=15) who completed 3 Tesla magnetic resonance imaging, 18F-THK5351 PET scans, and detailed neuropsychological tests, were included. Voxel-based and region of interest (ROI)-based analyses were performed to evaluate retention of 18F-THK5351 in navPPA patients. RESULTS: In ROI-based analysis, patients with navPPA had higher levels of THK retention in the Broca's area, bilateral inferior frontal lobes, bilateral precentral gyri, and bilateral basal ganglia. Patients with navPPA showed higher levels of THK retention in bilateral frontal lobes (mainly left side) compared than NC in voxel-wise analysis. CONCLUSIONS: In our study, THK retention in navPPA patients was mainly distributed at the frontal region which was well correlated with functional-radiological distribution of navPPA. Our results suggest that tau PET imaging could be a supportive tool for diagnosis of navPPA in combination with a clinical history.
Alzheimer Disease ; Aphasia, Primary Progressive* ; Basal Ganglia ; Broca Area ; Diagnosis ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Neurofibrillary Tangles ; Neuropsychological Tests ; Positron-Emission Tomography ; Primary Progressive Nonfluent Aphasia ; tau Proteins

PURPOSE: Speech and language development is an useful indicator of the overall development of children. Since speech and language delay can lead to emotional, social, and learning problems, the early intervention is very important. We examined 137 children with speech or language problems including 22 children of functional articulation disorders of their clinical features. METHODS: 137 children with speech or language problems in the Department of Pediatrics, Uijeongbu St. Mary's Hospital from January 2004 to December 2007 were reviewed for sex, age, developmental and language test findings retrospectively. Especially, in 22 children diagnosed with functional articulation disorders, articulation test findings were analyzed. RESULTS: 1) The mean age of 137 children was 46.8 months, the ratio of male to female was 2.5:1, and the most frequent age group was 24-35 months. The chief complaints included language delay(67.2%), mispronouncing speech sound(27%), stuttering(3.6%), learning disability(2.2%). The diagnoses of them were developmental language disorder(70.8%), functional articulation disorders(16.1%), mental retardation(5.8%), stuttering(2.9%), tongue tie(0.7%), normal language pattern(3.6%). 2) The mean age of 22 patients with functional articulation disorders was 63 months, the ratio of male to female was 1.4:1, and the most frequent age group was 60-71 months. The mean percentage of consonant correct of Picture Consonant Articulation Test was higher in older age group. In the types of phonetic errors substitutions were most common. Distortions, omissions, and additions were followed in the order of frequency. Substitutions and distortions were common in word initial and medial but omissions in word final. It is appeared that the patients had the difficulties in pronouncing alveolar fricative, palatal affricate, liquid, and velar plosive which mature lately in older children. Mainly palatal affricate, alveolar fricative, and velar plosive were substituted for alveolar plosive and the liquid and alveolar fricative were distorted as gliding. CONCLUSION: Categorizing the cause of language and speech delay is essential to make an adequate treatment plans and decrease the late complications. The future studies for the early screening, more suitable tests in Korean, treatment guidelines or prognosis are needed.
Articulation Disorders ; Child ; Early Intervention (Education) ; Female ; Humans ; Language Development ; Language Development Disorders ; Language Tests ; Learning ; Male ; Mass Screening ; Pediatrics ; Prognosis ; Retrospective Studies ; Tongue

OBJECTIVE: To investigate the usefulness of MacArthur-Bates Communicative Development Inventories-Korean (M-B CDI-K) short form as a screening test in children with language developmental delay. METHODS: From April 2010 to May 2012, a total of 87 patients visited the department of physical medicine and rehabilitation of National Health Insurance Service Ilsan Hospital with the complaint of language developmental delay and were enrolled in this study. All patients took M-B CDI-K short form and Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES) according to their age. RESULTS: The study group consisted of 58 male patients and 29 female patients and the mean age was 25.9 months. The diagnosis are global developmental delay in 26 patients, selective language impairment in 31 patients, articulation disorder in 7 patients, cerebral palsy in 8 patients, autism spectrum disorder in 4 patients, motor developmental delay in 4 patients, and others in 7 patients. Seventy-one patients are diagnosed with language developmental delay in SELSI or PRES and of them showed 69 patients a high risk in the M-B CDI-K short form. Sixteen patients are normal in SELSI or PRES and of them showed 14 patients non-high risk in the M-B CDI-K short form. The M-B CDI-K short form has 97.2% sensitivity, 87.5% specificity, a positive predictive value of 0.97, and a negative predictive value of 0.88. CONCLUSION: The M-B CDI-K short form has a high sensitivity and specificity so it is considered as an useful screening tool in children with language developmental delay. Additional researches targeting normal children will be continued to supply the specificity of the M-B CDI-K short form.
Articulation Disorders ; Cerebral Palsy ; Autism Spectrum Disorder ; Child* ; Diagnosis ; Female ; Humans ; Infant ; Language Development Disorders ; Language Development* ; Male ; Mass Screening* ; National Health Programs ; Physical and Rehabilitation Medicine ; Sensitivity and Specificity

No abstract available.
Language Development Disorders*

OBJECTIVE: To investigate whether the dual route model is applicable to Korean word reading in acquired dyslexia after stroke. METHOD: Sixty-two year old patient with dyslexia after left inferior temporal and occipital lobe infarct was evaluated according to the lexical processing. After evaluation of general cognitive and language function, visual perception, semantic, and lexical stages were assessed. RESULTS: Visual perception was appropriate, and semantic categorization and picture-word matching tasks were 80.6% and 78.6% correct, respectively. Lexical decision task showed no significant differences within word classes, except shorter reaction time in reading words of Korean origin than those of chinese origin (p <0.05). The patient was able to read only 39.8% of tested words, and he could not read all the non-words. Reading of high frequency word was superior (65.4%) to that of low frequency words (10.9%) and semantic errors were not remarkable (p <0.05). CONCLUSION: The patient showed characteristics of recovery from deep to phonologic dyslexia with impairment of grapheme to phoneme conversion (GPC) route. These findings support that dual route model is applicable to Korean word reading.
Asian Continental Ancestry Group ; Dyslexia ; Dyslexia, Acquired ; Humans ; Language Disorders ; Occipital Lobe ; Reaction Time ; Semantics ; Stroke* ; Visual Perception