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1.
AJNR Am J Neuroradiol ; 35(3): 587-92, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24335547

ABSTRACT

BACKGROUND AND PURPOSE: There has been much discussion whether brain abnormalities associated with specific language impairment and autism with language impairment are shared or are disorder specific. Although white matter tract abnormalities are observed in both specific language impairment and autism spectrum disorders, the similarities and differences in the white matter abnormalities in these 2 disorders have not been fully determined. MATERIALS AND METHODS: Diffusion tensor imaging diffusion parameters of the arcuate fasciculus were measured in 14 children with specific language impairment as well as in 16 children with autism spectrum disorder with language impairment, 18 with autism spectrum disorder without language impairment, and 25 age-matched typically developing control participants. RESULTS: Language impairment and autism spectrum disorder both had (elevating) main effects on mean diffusivity of the left arcuate fasciculus, initially suggesting a shared white matter substrate abnormality. Analysis of axial and radial diffusivity components, however, indicated that autism spectrum disorder and language impairment differentially affect white matter microstructural properties, with a main effect of autism spectrum disorder on axial diffusivity and a main effect of language impairment on radial diffusivity. CONCLUSIONS: Although white matter abnormalities appear similar in language impairment and autism spectrum disorder when examining broad white matter measures, a more detailed analysis indicates different mechanisms for the white matter microstructural anomalies associated with language impairment and autism spectrum disorder.


Subject(s)
Cerebrum , Child Development Disorders, Pervasive/diagnosis , Diffusion Tensor Imaging , Language Disorders/diagnosis , Child , Female , Humans , Male
2.
Genet Med ; 3(1): 40-4, 2001.
Article in English | MEDLINE | ID: mdl-11339376

ABSTRACT

PURPOSE: The purpose of this study is to review the neurodevelopmental outcome of infants and preschoolers with a 22q11.2 microdeletion and to discuss the our clinical observations of clinical implications for educational and therapeutic interventions. METHODS: One hundred twelve children (4 to 70 mos) with the 22q11.2 deletion were assessed using standardized tests (Bayley Scales of Infant Development-II, Preschool Language Scales, Wechsler Preschool and Primary Scales of Intelligence-Revised). RESULTS: Fifty-four percent of the children were significantly delayed, 24% had mild delay, 22% had average cognitive development, and 80% were below average in language development. Delays are not explained by cardiac defects or palatal defects. CONCLUSION: Developmental delays, mild hypotonia, language and speech delays, and feeding disorders are common, and this finding indicates the need for early intervention services beginning in infancy for children with the 22q11.2 deletion.


Subject(s)
Abnormalities, Multiple/diagnosis , Chromosome Deletion , Chromosomes, Human, Pair 22 , Child , Child, Preschool , Developmental Disabilities/diagnosis , DiGeorge Syndrome/genetics , Female , Follow-Up Studies , Humans , In Situ Hybridization, Fluorescence , Infant , Male , Psychological Tests , Syndrome
3.
Genet Med ; 3(1): 67-71, 2001.
Article in English | MEDLINE | ID: mdl-11339383

ABSTRACT

PURPOSE: The purpose of this investigation is to describe the communication profile of children with the 22q11.2 deletion syndrome from infancy through school age and to examine the influence of other medical aspects, such as palate anomalies, learning disorders, and cardiac defects of the syndrome to communication. METHODS: Seventy-nine children were examined using standardized tests of speech and language and perceptual measures of resonance and voice. RESULTS: Results show significant delay in emergence of speech and language milestones with delay/disorder in speech-language processes persisting into the school aged years, including those children diagnosed with nonverbal learning disabilities. Persistent articulation and resonance disorders were also present, presumed to be related in part to palatal anomalies. No correlation was found between cardiac status, learning disorders, palate anomalies and communication disorders. CONCLUSION: The need for early identification and management of communication skills is crucial in the care of children with the 22q11.2 deletion.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22 , Language Disorders/genetics , Speech Disorders/genetics , Adolescent , Child , Child, Preschool , Cognition , Female , Heart Defects, Congenital/genetics , Humans , Infant , Male , Mental Processes , Prospective Studies , Syndrome
4.
Plast Reconstr Surg ; 106(6): 1254-9; discussion 1260-1, 2000 Nov.
Article in English | MEDLINE | ID: mdl-11083554

ABSTRACT

In an attempt to predict which patients might benefit from primary posterior pharyngeal flaps done at the time of palatal repair, palatal length was assessed before palatal repair and the patient was placed in one of four categories. Patients with longer palates preoperatively had statistically better speech outcomes than patients with shorter palates. Statistical significance was found for most speech parameters. Information on presurgical palatal length can be useful in predicting which patients might profit from primary "pharyngoplasties."


Subject(s)
Cleft Palate/pathology , Palate/pathology , Speech , Adolescent , Child , Humans , Prospective Studies , Surgical Flaps , Treatment Outcome
5.
J Commun Disord ; 33(3): 187-203; quiz 203-4, 2000.
Article in English | MEDLINE | ID: mdl-10907715

ABSTRACT

The 22q11.2 microdeletion syndrome is a genetic disorder that is being recognized with increasing frequency. Confirmation of the diagnosis can be made using fluorescence in situ hybridization. Many medical and developmental problems are present in children with this syndrome. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. The purpose of this paper is to provide a description of the communicative and developmental features in a sample of children with the 22q11.2 microdeletion syndrome seen for evaluation. Because communication and feeding disorders may be presenting features of this syndrome, speech and language pathologists must be familiar with this syndrome and its various characteristics. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex communicative and medical problems present in this population.


Subject(s)
Chromosome Aberrations/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , Communication Disorders/genetics , Adolescent , Child , Child, Preschool , Chromosome Disorders , Deglutition Disorders/genetics , Hearing Disorders/genetics , Humans , Language Disorders/genetics , Speech Disorders/genetics , Syndrome , Voice Disorders/genetics
6.
Plast Reconstr Surg ; 105(6): 2127-32, 2000 May.
Article in English | MEDLINE | ID: mdl-10839414

ABSTRACT

We report the speech outcome in 90 children with complete unilateral cleft lip and palate who underwent soft palate repair either between 3 and 7 months of age (n = 40) or later than 7 months of age (n = 50). In all patients, palatoplasty was performed by one of two experienced surgeons using a modification of the Furlow technique, and speech evaluations were conducted using the Pittsburgh Weighted Values for Speech Symptoms Associated with Velopharyngeal Incompetence by two speech pathologists with high inter-rater reliability. There were no differences between the groups with respect to resonance, nasal air emission, and articulation. Velopharyngeal function, as measured by the total speech score, was similar between the two groups of patients, as were the rates of secondary pharyngoplasty. These results suggest that very early closure of the soft palate may not offer significant benefit over repair later in infancy with respect to speech outcome.


Subject(s)
Cleft Palate/surgery , Age Factors , Child , Child, Preschool , Cleft Lip/surgery , Follow-Up Studies , Humans , Infant , Palate/surgery , Palate, Soft/surgery , Postoperative Complications , Treatment Outcome , Velopharyngeal Insufficiency/diagnosis , Velopharyngeal Insufficiency/etiology , Voice Quality
7.
Am J Med Genet ; 85(2): 127-33, 1999 Jul 16.
Article in English | MEDLINE | ID: mdl-10406665

ABSTRACT

A microscopic deletion of chromosome 22q11.2 has been identified in most patients with the DiGeorge, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies. This study presents the neurodevelopmental outcome, including cognitive development, language development, speech, neuromuscular development, and behavioral characteristics of 40 preschool children (ages 13 to 63 months) who have been diagnosed with the 22q11.2 deletion. The impact of cardiac disease, cardiac surgery, and the palatal anomalies on this population was also studied. In the preschool years, children with a 22q11.2 deletion are most commonly found to be developmentally delayed, have mild hypotonia, and language and speech delays. The more significantly delayed children are at high risk to be subsequently diagnosed with mild or moderate mental retardation. The global delays and the variations in intelligence found are directly associated with the 22q11.2 deletion and are not explained by physical anomalies such as palatal defects or cardiac defects, or therapeutic interventions such as cardiac surgery. Our findings demonstrate that there is a pattern of significant speech disorders within this population. All of the children had late onset of verbal speech. Behavioral outcomes included both inhibition and attention disorders. Early intervention services are strongly recommended beginning in infancy to address the delays in gross motor skills, speech and language, and global developmental delays.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22 , Developmental Disabilities/genetics , Behavioral Symptoms/genetics , Child, Preschool , Cleft Palate/complications , Cognition Disorders/genetics , Female , Heart Diseases/complications , Heart Diseases/surgery , Humans , Infant , Language Development , Male , Neuromuscular Diseases/complications , Velopharyngeal Insufficiency/complications
8.
Genet Couns ; 10(1): 11-24, 1999.
Article in English | MEDLINE | ID: mdl-10191425

ABSTRACT

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22 , DiGeorge Syndrome/genetics , Velopharyngeal Insufficiency/genetics , Abnormalities, Multiple/diagnosis , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , DiGeorge Syndrome/diagnosis , Diagnosis, Differential , Facies , Female , Genetic Counseling , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/genetics , Humans , Infant , Infant, Newborn , Male , Phenotype , Philadelphia , Velopharyngeal Insufficiency/diagnosis
9.
J Pediatr ; 134(2): 193-8, 1999 Feb.
Article in English | MEDLINE | ID: mdl-9931529

ABSTRACT

OBJECTIVES: To examine the psychoeducational profile associated with the chromosome 22q11.2 microdeletion (DiGeorge/velocardiofacial syndrome). STUDY DESIGN: Thirty-three patients (aged 6 to 27 years) with a 22q11.2 microdeletion underwent psychoeducational testing as part of a comprehensive evaluation. Nonparametric statistics were used to compare verbal and performance IQ, academic achievement scores, and receptive versus expressive language scores. Post hoc comparisons were made of IQ subtest scores and of language versus verbal IQ. RESULTS: Full-scale IQ ranged from the normal to the moderately retarded range. Mean verbal IQ was significantly higher than mean performance IQ. In a similar manner, mean reading and spelling scores were superior to the mean mathematics score, although achievement scores typically were in the range of verbal IQ. In addition, many children showed clinically significant language impairments, with mean language scores lower than mean verbal IQ. CONCLUSIONS: The IQ and academic profiles are reminiscent of a "nonverbal learning disability," although achievement was not discrepant from IQ. The coincidence of language impairment with a relative strength in reading belies a unique neuropsychologic profile. Educational programming for these children must address both verbal and nonverbal deficits.


Subject(s)
Chromosomes, Human, Pair 22/genetics , Developmental Disabilities/genetics , Intelligence , Adolescent , Adult , Child , Chromosome Deletion , Educational Measurement , Female , Humans , Intelligence Tests , Language , Male , Neuropsychological Tests , Statistics, Nonparametric , Syndrome
10.
Plast Reconstr Surg ; 104(7): 1998-2010; discussion 2011-4, 1999 Dec.
Article in English | MEDLINE | ID: mdl-11149762

ABSTRACT

Although the optimal technique of cleft-palate repair remains controversial, several small series have suggested that superior speech results may be obtained with the Furlow double-opposing Z-plasty. To examine speech outcome in a large series of Furlow palatoplasties performed at a single center, we retrospectively reviewed the records of 390 cleft-palate patients who underwent Furlow palatoplasty at The Children's Hospital of Philadelphia from 1979 to 1992. Speech outcome at 5 years of age or greater was available for 181 nonsyndromic patients and was scored using the Pittsburgh Weighted Values for Speech Symptoms Associated with Velopharyngeal Incompetence. No or mild hypernasality was noted in 93.4 percent of patients, with 88.4 percent demonstrating no or inaudible nasal escape and 97.2 percent demonstrating no errors in articulation associated with velopharyngeal incompetence. Secondary pharyngeal flap surgery was required in just 7.2 percent of patients. Age at palatoplasty, cleft type, and experience of the operating surgeon had no significant effect on speech results, although there was a trend toward better outcome in those undergoing palatal repair before 6 months of age and toward poorer outcome in those with Veau class I and II clefts. Overall, Furlow palatoplasty yielded outstanding speech results, with rates of velopharyngeal dysfunction that seem to improve upon those reported for other techniques.


Subject(s)
Cleft Palate/surgery , Oral Surgical Procedures , Child, Preschool , Cleft Palate/classification , Humans , Infant , Retrospective Studies , Speech , Treatment Outcome
12.
Pediatrics ; 99(5): E9, 1997 May.
Article in English | MEDLINE | ID: mdl-9113966

ABSTRACT

OBJECTIVE: Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or submucousal cleft palate, as well as velopharyngeal incompetence (VPI). Previous studies have demonstrated that the majority of these patients have a submicroscopic deletion of chromosome 22q11.2. We hypothesized that a subpopulation of newborns and children with congenital heart defects caused by a 22q11.2 deletion are at a high risk for having unrecognized palatal abnormalities. Therefore, we proposed to evaluate a cohort of patients with conotruncal cardiac malformations associated with a 22q11.2 deletion to determine the frequency of palatal abnormalities. METHODS: We identified 14 deletion-positive patients with congenital cardiac defects who had no overt cleft palate. Of the 14 patients evaluated for the 22q11.2 deletion, 8 patients were recruited from a previous study looking for deletions among patients with isolated conotruncal cardiac anomalies. Informed consent was obtained in these cases. The remaining patients had the deletion study on a clinical basis, ie, conotruncal cardiac defect and an absent thymus, immunodeficiency, or minor dysmorphia appreciated by the clinical geneticist. These patients were evaluated by a plastic surgeon and speech pathologist looking for more subtle palatal anomalies such as a submucousal cleft palate, absence of the musculous uvuli, and VPI. Some patients underwent videofluoroscopy or nasendoscopy depending on their degree of symptoms and age. VPI was not ruled out until objective evaluation by a speech pathologist and plastic surgeon was obtained. In addition, the child had to be old enough to provide an adequate speech sample. RESULTS: Of the 14 patients evaluated, 6 patients older than 1 year were found to have VPI. It is noteworthy that 3 of these patients were older than 5 years and had remained unrecognized until this study. The remaining 6 patients had inconclusive studies based on their age (younger than 26 months) and their inability to participate in adequate speech evaluations. Two of these patients, however, had histories of nasal regurgitation suggesting VPI and, in addition, had incomplete closure of the velopharyngeal mechanism during crying and swallowing observed during nasendoscopic examination-consistent with the diagnosis of VPI. Thus, 8 of 14 patients evaluated had evidence of VPI by history and examination. The remaining 6 patients will require further study when they are older before a definitive palatal diagnosis can be made. CONCLUSIONS: A significant number of patients with a 22q11.2 deletion in a cardiac clinic may have unrecognized palatal problems. Recognition of such abnormalities will afford patients the opportunity for intervention as needed, ie, speech therapy and/or surgical intervention. Notably, two of our patients with findings suggesting VPI were infants and will, therefore, be afforded the opportunity for close follow-up and early intervention. Furthermore, three school-aged children had palatal abnormalities that were unrecognized until this study. Thus, we recommend 22q11.2 deletion studies in patients with conotruncal cardiac malformations, followed by extensive palatal and speech evaluations when a deletion is present.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22 , Heart Defects, Congenital/genetics , Velopharyngeal Insufficiency/diagnosis , Velopharyngeal Insufficiency/genetics , Abnormalities, Multiple/epidemiology , Child , Child, Preschool , Cleft Palate/epidemiology , Cleft Palate/genetics , Cohort Studies , Ear, External/abnormalities , Face/abnormalities , Humans , Incidence , Infant , Risk Assessment
13.
Genet Test ; 1(2): 99-108, 1997.
Article in English | MEDLINE | ID: mdl-10464633

ABSTRACT

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , Adolescent , Adult , Child , Child, Preschool , Cleft Palate/genetics , Cohort Studies , DiGeorge Syndrome/genetics , Face/abnormalities , Female , Genetic Testing , Heart Defects, Congenital/genetics , Humans , Infant , Male , Phenotype , Syndrome
14.
Plast Reconstr Surg ; 98(4): 610-9; discussion 620-1, 1996 Sep.
Article in English | MEDLINE | ID: mdl-8773683

ABSTRACT

Reported here are the results of a retrospective study of the speech outcome for 63 cleft subjects who had Furlow repairs compared with 20 subjects who had other procedures. The two groups of children were similar in cleft type, sex, and race. The same two surgeons repaired the palates in both groups, and the same two speech pathologists with high reliability examined the children at least 5 years postoperatively using the Pittsburgh Weighted Values for Speech Symptoms Associated with VPI (velopharyngeal incompetence). Subjects who had had Furlow repairs were superior on measures of hypernasality, articulation, and total speech scores; and fewer pharyngeal flaps were required by Furlow subjects. These findings suggest the need for randomized, double-blind investigations comparing outcome of the Furlow procedure with the intravelar veloplasty, the V-Y pushback, and other specified procedures.


Subject(s)
Cleft Palate/surgery , Palate/surgery , Speech , Surgery, Plastic/methods , Humans , Retrospective Studies , Speech Intelligibility , Treatment Outcome
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