Fragile X syndrome: growth, development, and intellectual function.

We collected data on growth, psychomotor development, speech and language development, and intellectual function on a cohort of 100 males with the fragile X chromosome and 95 carrier females. The data include information on prenatal growth (33 males), growth during the preadult years (32 males), psychomotor development during the first 2 years (25 males), speech and language development (15 males and 5 females), and intellectual function (93 males, 33 females, and 10 obligate carriers who were cytogenetically normal). Birth measurements appeared normal when plotted on the Usher/McLean curves of newborn infants (mean head circumference - OFC - at 40th centile, length at 60th centile and weight at 55th centile). Following birth, OFC rose above the 50th percentile and continued above average throughout the preadult years, whereas average length was above average for the first 5 years only and weight did not deviate from the normal mean. Psychomotor development lagged behind the norm from birth with affected males requiring nearly twice as long as expected to sit alone, walk unassisted, and say first words clearly. All males and females studied had significant language delay; all except one male had abnormalities of articulation. All on whom a clear voice sample was obtained had low voice pitch, and 80% had a hoarse or harsh quality of voice. Five males had word repetitions or perseverative speech during the preadult years. The mean IQ of the 93 males studied was 33 and regression analysis demonstrated a decrease in intellectual performance with age. Four fifths of the female carriers who expressed the fra(X) had intellectual performance in the mentally retarded range and showed similar decrease in performance with age. Obligate female carriers who did not express the fra(X) site had normal IQs (IQ 102 +/- 13.3).

Augmentation of the failed pharyngeal flap.

Pharyngeal flaps are frequently used with good results to eliminate hypernasality and/or nasal escape. In a small percentage of patients, however, cicatricial contracture of the flap occurs to such a degree that velopharyngeal incompetence returns. The authors have devised a method of augmenting the scarred flap with small, superiorly based flaps lateral and adjacent to the original flap. Four cases are presented in which speech analysis was conducted prior to the procedure and then for 9 to 24 months postoperatively. The postoperative speech results are all within normal limits.

Levator muscle reconstruction: resulting velopharyngeal competence--a preliminary report.

The purpose of this study was to evaluate a levator muscle reconstruction procedure on the basis of resulting velopharyngeal competence. Ages of the patients at time of surgery ranged from 5 months to 7 years. The patients were reevaluated postoperatively. If the patients were judged to have normal nasality and no nasal emission, the procedure was considered to have yielded a satisfactory result. If hypernasality and nasal emission resulted, the patients were examined utilizing nasoendoscopy and/or videofluoroscopy. If velopharyngeal incompetence was confirmed, the operative procedure was judged to be successful. Results showed that 60 percent success was achieved. The age range which yielded the best results (73 percent satisfactory) was 37 to 60 months. The data also revealed that the more severe the cleft, the less likely this operative procedure is to produce satisfactory results. The authors recommend continued evaluation of this procedure, preferably utilizing prospective studies.

Incidence and prevalence of cleft lip and palate: what we think we know.

The descriptive epidemiology of the spectrum of orofacial cleft disorders has many methodologic problems, including (1) casefinding using data sources such as birth certificates, fetal death certificates, and hospital records that often produce ascertainment bias, selection bias, or both and (2) the multiple comparisons problem (i.e., the chance occurrence of statistically significant findings). The resultant incidence and prevalence rates from studies with inadequate designs or inadequate data are limited and may be misleading. A variety of reasons is advanced to explain the wide discrepancies in reported statistics on orofacial clefting from different geographic areas, ethnic groups, and time periods. Specific recommendations are offered for producing better epidemiologic data. An example of how higher quality descriptive statistics can be used for future hypothesis testing is also provided.

Symbolic representation of cleft lip and palate.

Since the introduction of symbolic representations of cleft lip and palate anomalies in 1964, they have served the clinician as a quick and easy method of recording these disorders. This paper reviews the evolution of the schematic classification systems and evaluates them. It then presents a new scheme that synthesizes what the authors feel are the most advanced of the existing symbolic representations. This proposed new symbolic representation scheme also specifically provides for ratings of severity (including the documentation of microforms) and facilitates computerized data storage and analysis.

Craniofacial screening profile: quick screening for congenital malformations.

The correct identification of syndromes and other congenital malformations at an early age is critical for the child, family and care providers. Most specialists who conduct large screenings of young children are not adequately trained to recognize signs and symptoms that should lead to appropriate referral to the clinical geneticist and/or diagnostic team. A systematic approach for recognizing important signs is presented here; a Craniofacial Screening Profile. Following a brief training program, the Profile was validated by 39 speech-language pathologists in screening 3,539 kindergarten and first grade children. The results were excellent (specificity was 99.6%), demonstrating that with limited training, specialists can effectively screen for important signs and symptoms of a major group of syndromes and other congenital malformations.