Molecular genetics of speech and language disorders

In 2001, scientists characterized the first gene to be implicated in the cause of a speech and language disorder (FOXP2). Although FOXP2 was discovered using a unique family in which a severe speech and language disorder segregates in a monogenic fashion, at the time this discovery was heralded as "a milestone in understanding this uniquely human characteristic." Approximately 1 year later, we discuss the impact of this gene discovery on the study of language and review the relevance of this gene to both specific language impairment and language aspects of the autistic phenotype. We also discuss recent molecular genetic advances made in the study of generalized specific language impairment.     

New developments in the management of speech and language disorders

Speech and language disorders, which include swallowing difficulties, are usually managed by speech and language therapists. Such a diverse, complex and challenging clinical group of symptoms requires practitioners with detailed knowledge and understanding of research within those areas, as well as the ability to implement appropriate therapy strategies within many environments. These environments range from neonatal units, acute paediatric wards and health centres through to nurseries, schools and children's homes. This paper summarises the key issues that are fundamental to our understanding of this client group.     

儿童言语和语言障碍的临床研究

目的 了解儿童言语和语言障碍的现状及治疗。方法 运用采集病史、填写问卷、发育成智力检查、听力和言语语言测试等方法对儿童言语语言问题作了评估；运用行为矫正、言语语言治疗和家庭治疗三者结合的模式对儿童言语语言问题进行治疗。结果 言语语言障碍病例占儿童保健初诊病人6.6%。我国儿童言语语言障碍27.1%错过临床最佳的治疗时期。语言障碍、构音异常和口吃是儿童言语语言障碍门诊的三大问题。运用综合治疗模式治疗，40例均收到一定的临床疗效。结论 言语和语言障碍应引起全社会的关注，多专业的协作治疗。     

言语语言障碍儿童执行功能的研究现状

语言是人类交流的工具,与认知功能以及思维的发展有关.执行功能作为人类一种高级认知功能,与学龄前期儿童的语言能力密切联系、协调发展.探讨语言能力与执行功能之间的关系具有广阔的理论前途和应用前景,该文对言语语言障碍儿童执行功能的国内外研究结果进行综述.     

New developments in the management of speech and language disorders.

Speech and language disorders, which include swallowing difficulties, are usually managed by speech and language therapists. Such a diverse, complex and challenging clinical group of symptoms requires practitioners with detailed knowledge and understanding of research within those areas, as well as the ability to implement appropriate therapy strategies within many environments. These environments range from neonatal units, acute paediatric wards and health centres through to nurseries, schools and children's homes. This paper summarises the key issues that are fundamental to our understanding of this client group.     

Speaking genes or genes for speaking? Deciphering the genetics of speech and language

Background:  This article selectively reviews the status of the genetic research in the field of speech and language disorders.
Methods:  Major contributions to the field are selected, presented, and discussed.
Results:  The field presents itself through a variety of findings, characterized by both consistencies and inconsistencies.
Conclusions:  The last 30 + years of the field unequivocally testify to the importance of genetic factors in the acquisition of speech and language. However, the details of how these factors exert their influence are yet to be determined.     

Motor performance in 5-year-old preschool children with developmental speech and language disorders

Aim:  The aim of the study was to evaluate motor performance in 5-year-old children with mild-to-moderate developmental speech and language disorders (DSLD) in comparison of age- and gender-matched healthy children.
Materials and methods:  A total of 32 DSLD children and 45 control group (CG) children participated in our study. The children were examined for dexterity skills and gross motor function through vertical jumping performance, maximal isometric strength of the leg extensors and isometric hand-grip strength.
Results:  Dexterity skills did not differ significantly in the measured groups, but DSLD children performed more poorly in gross motor tasks. DSLD children demonstrated significantly lower vertical jumping height compared to CG children. DSLD girls had lower isometric strength of the leg extensors compared to all other measured groups. The hand-grip strength was greater in CG boys compared to all other measured groups. No significant differences in this parameter were observed between CG girls and DSLD children, although DSLD girls' result was the lowest.
Conclusion: In children with mild-to-moderate DSLD, the lag of gross motor development is clearly evident; however, they do not differ from CG children in dexterity skills. DSLD girls had more affected gross motor function compared to DSLD boys.     

Dysphagia, speech disorders and centrotemporal spikes-waves

Repeated paroxysmal oropharyngeal fits consisting of sialorrhea and speech arrest are described in a 5 year-4-month old patient. Investigations were initially oriented towards a laryngeal or a gastrointestinal disease. Electroencephalographic tracings showed repeated bilateral centrotemporal spikes-waves discharges which sometimes were associated with bilateral facial clonic contractions synchronous with anarthria and sialorrhea. Consciousness was preserved. Attacks were related with a cluster of fits of a partial epilepsy. Transient pseudo-bulbar palsy (anterior opercular syndrome) resulted from seizures: loss of identifiable speech, drooling with difficulties in swallowing, absence of palatal movements and of the gag reflex. Intellectual functions remained normal. Other investigations were all normal (CT scan, MRI, cytologic and immunological CSF studies). With common anticonvulsant drugs (Valproate and Carbamazepine) seizures resolved within a few weeks. These findings suggest that this particular epilepsy is an unusual type of benign partial epilepsy with centrotemporal (or Rolandic) spikes.     

Relationship between speech-sound disorders and early literacy skills in preschool-age children: impact of comorbid language impairment

OBJECTIVE: Disorders of articulation or speech-sound disorders (SSD) are common in early childhood. Children with these disorders may be at risk for reading difficulties because they may have poor auditory, phonologic, and verbal memory skills. METHODS: We sought to characterize the reading and writing readiness of preschool children with SSD and identify factors associated with preliteracy skills. Subjects were 125 children aged 3 to 6 years with moderate to severe SSD; 53% had comorbid language impairment (LI). Reading readiness was measured with the Test of Early Reading Ability-2 (TERA) and writing skills with the Test of Early Written Language-2 (TEWL), which assessed print concept knowledge. Linear regression was used to examine the association between SSD severity and TERA and TEWL scores and analysis of variance to examine the effect of comorbid LI. Performance on a battery of speech and language tests was reduced by way of factor analysis to composites for articulation, narrative, grammar, and word knowledge skills. RESULTS: Early reading and writing scores were significantly lower for children with comorbid LI but were not related to SSD severity once language status was taken into account. Composites for grammar and word knowledge were related to performance on the TERA and TEWL, even after adjusting for Performance IQ. Below average language skills in preschool place a child at risk for deficits in preliteracy skills, which may have implications for the later development of reading disability. CONCLUSION: Preschool children with SSD and LI may benefit from instruction in preliteracy skills in addition to language therapy.     

言语与语言发育障碍

刘智胜主任医师湖北省武汉市儿童医院     

Identification of speech disorders

This article focuses on the early identification and referral of children who may have speech disorders. A distinction is made between speech and language, i.e., speech is the spoken vehicle by which we communicate our thoughts, as expressed symbolically through language. The evaluation of speech should be performed systematically by the assessment of four basic components of speech: phonation, resonance, articulation, and prosody. Suggestions regarding management and referral are presented.     

Hearing,speech, and language in survivors of severe perinatal asphyxia.

Hearing, speech, and language were studied in 26 children who survived severe perinatal asphyxia. The results of hearing tests showed that most children had a favourable outcome. Only 1 child had sensorineural deafness. Hearing loss in 6 others was due to middle-ear disease which resolved after treatment, and on retesting was found to be normal. The study also showed that neither gentamicin treatment nor incubator noise seemed to affect hearing. The results of speech and language assessment were less encouraging and about one-third of the children without serious mental or physical handicap had deficits in speech and language. It is suggested that the quality of life in such children could be improved if these deficits were detected early and adequately treated.     

The genetics of developmental disorders

Children with developmental disorders often have complex health needs and require frequent input from many different paediatric services. Genomic technologies have revolutionised how these disorders are diagnosed and have real potential to transform the management of previously intractable paediatric conditions. For paediatricians to fully harness these benefits for their patients, and to work productively with their clinical genetics colleagues within the multi-disciplinary team, they must be genomically literate and aware of the technical and ethical challenges. In this review article, we summarise the current understanding of the genetic architecture of developmental disorders; discuss the different types of genetic tests currently available, their strengths and limitations in clinical practice; and discuss the challenges and future opportunities in paediatric genomic medicine.