Optimizing linguistic materials for feature-based intelligibility assessment in speech impairments.

Assessing the intelligibility of speech-disordered individuals generally involves asking them to read aloud texts such as word lists, a procedure that can be time-consuming if the materials are lengthy. This paper seeks to optimize such elicitation materials by identifying an optimal trade-off between the quantity of material needed for assessment purposes and its capacity to elicit a robust intelligibility metrics. More specifically, it investigates the effect of reducing the number of pseudowords used in a phonetic-acoustic decoding task in a speech-impaired population in terms of the subsequent impact on the intelligibility classifier as quantified by accuracy indexes (AUC of ROC, Balanced Accuracy index and F-scores). A comparison of obtained accuracy indexes shows that when reduction of the amount of elicitation material is based on a phonetic criterion-here, related to phonotactic complexity-the classifier has a higher classifying ability than when the material is arbitrarily reduced. Crucially, downsizing the material to about 30% of the original dataset does not diminish the classifier's performance nor affect its stability. This result is of significant interest to clinicians as well as patients since it validates a tool that is both reliable and efficient.

Influence of phonetic context on the dysphonic event: contribution of new methodologies for the analysis of pathological voice.

Widely studied in terms of perception, acoustics or aerodynamics, dysphonia stays nevertheless a speech phenomenon, closely related to the phonetic composition of the message conveyed by the voice. In this paper, we present a series of three works with the aim to understand the implications of the phonetic manifestation of dysphonia. Our first study proposes a new approach to the perceptual analysis of dysphonia (the phonetic labeling), which principle is to listen and evaluate each phoneme in a sentence separately. This study confirms the hypothesis of Laver that the dysphonia is not a constant noise added to the speech signal, but a discontinuous phenomenon, occurring on certain phonemes, based on the phonetic context. However, the burden of executing the task has led us to look to the techniques of automatic speaker recognition (ASR) to automate the procedure. With the collaboration of the LIA, we have developed a system for automatic classification of dysphonia from the techniques of ASR. This is the subject of our second study. The first results obtained with this system suggest that the unvoiced consonants show predominant performance in the task of automatic classification of dysphonia. This result is surprising since it is often assumed that dysphonia occurs only on laryngeal vibration. We started looking for explanations of this phenomenon and we present our assumptions and experiences in the third work we present.

Automatic detection of laryngeal pathologies in records of sustained vowels by means of mel-frequency cepstral coefficient parameters and differentiation of patients by sex.

Mel-frequency cepstral coefficients (MFCC) have traditionally been used in speaker identification applications. Their use has been extended to speech quality assessment for clinical applications during the last few years. While the significance of such parameters for such an application may not seem clear at first thought, previous research has demonstrated their robustness and statistical significance and, at the same time, their close relationship with glottal noise measurements. This paper includes a review of this parameterization scheme and it analyzes its performance for voice analysis when patients are differentiated by sex. While it is of common use for establishing normative values for traditional voice descriptors (e.g. pitch, jitter, formants), differentiation by sex had not been tested yet for cepstral analysis of voice with clinical purposes. This paper shows that the automatic detection of laryngeal pathology on voice records based on MFCC can significantly improve its performance by means of this prior differentiation by sex.

[Ultrasonography of fetal esophagus: healthy appearance and prenatal diagnosis of a case of esophagus atresia with esotracheal fistula]. / Echographie de l'oesophage foetal: aspect physiologique et application au dépistage anténatal d'une atrésie oesophagienne.

The thoracic part of a fetal esophagus is generally overlooked by usual prenatal ultrasonography. However, screening it might improve the detection rate of esophageal malformations for which prenatal diagnosis remains far from accurate. In this article, we describe the technique which makes it possible to get a precise image of a fetal thoracic esophagus in its more sensitive part: between the trachea and the aorta. After describing the appearance of a healthy thoracic esophagus, we will show how this technique can be used for prenatal detection of esophagus malformations. For this purpose, we provide the case report of a prenatal diagnosis of esophagus atresia with esotracheal fistula.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown. METHODS: We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed. RESULTS: The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome. CONCLUSIONS: These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.

[Linear insertion of the atrioventricular valves without defect]. / Insertion linéaire des valves atrioventriculaires sans défect. A propos d'une nouvelle série anatomique de 213 coeurs de foetus trisomiques 21.

On a first anatomical series of 52 hearts of trisomic 21 fetuses, published in June 2002, we described a new minor cardiac anomaly, belonging to the atrioventricular septal defect, with a linear insertion of the atrioventricular valves without defect. We want to confirm these data, on a larger series of 213 new hearts of trisomic 21 fetuses by adding a complementary section to the standard examination; 100% of controls have shown a normal insertion with an offsetting of the atrioventricular valves. On 113 out of these 213 hearts of trisomic 21 fetuses, with a so called "normal" heart at the standard examination showing no defect, the complementary section has shown that only 37.2% of these hearts have a normal insertion, whereas 62.83% show a linear insertion, without offsetting and without any septal defect. This linear insertion has been observed in all the different types of atrioventricular septal defect as a good hallmark for trisomy 21; but, since then, they have always been described associated with a septal defect, atrial or ventricular. Our hypothesis is that the linear insertion of the atrioventricular valves without defect is the minor form of the atrioventricular septal defect spectrum, taking place between the prior described partial types of atrioventricular septal defect, in which there is always a defect (ostium primum type atrial septal defect or inflow type ventricular septal defect), and the real normal heart. A precise description of the level of the complementary section and of the anatomic peculiarities of the linear insertion of the atrioventricular valves without defect would help its screening in fetal ultrasonography.

Value of fetal autopsy after medical termination of pregnancy.

We carried out a retrospective study of 352 medical terminations of pregnancy (MTP) carried out in a large French administrative region over two consecutive years. We analysed the indications for MTP and then compared the prenatal ultrasound diagnosis with fetal autopsy findings in order to demonstrate the value of pathological examination of the fetus in prenatal diagnosis and genetic counselling as well as the need to check by autopsy the quality of ultrasound screening. Preliminary analysis of the indication for these MTP showed that in 69.9% ultrasound screening had been carried out, revealing mainly brain abnormalities (22.2%) and heart defects generally associated with chromosomal abnormalities (32.1%). Prenatal findings were in agreement with autopsy results, showing no false-positive prenatal diagnoses. However, in 7.9% of cases in which brain abnormalities were detected, confirmation was not possible at autopsy because of tissue autolysis, showing the need for optimal conditions of expulsion. In 35.8% of cases, confirmation of the diagnosis by autopsy was not useful for management but still added to medical knowledge and demonstrated to the mother the reality of the defects. In 50.9%, the autopsy findings were decisive for genetic counselling.

Congenital atrioventricular block: histological aspects.

It is known that maternal immunological factors such as systemic disease are involved in the genesis of cardiac conduction problems in the fetus but the histologic changes in the conduction system are less documented. We report the case of a 33-year-old woman with no significant medical history. Her first pregnancy was induced by Clomifene. At 17 weeks of gestation, the fetus presented sonographic abnormalities characteristic of a complete atrioventricular block. Biological investigations found anti-SSA and -SSB antibodies. Clinical history search for systemic disease was positive for photosensitivity, lasting 10 years, suggesting the diagnosis of systemic lupus erythematosus. The patient was treated with prednisone 20 mg per day but fetal death occurred at 29 weeks of gestation. Histological examination of the fetal heart showed an altered atrioventricular node and bundle of His with fibrosis, calcifications, endocardial fibroelastosis and mononucleated inflammatory cells. The search for these specific lesions can be determinant in establishing the disease pathogenesis; also, it is important to eliminate this diagnosis in an unexplained fetal death.

Value of fetal skeletal radiographs in the diagnosis of fetal death.

The aim of this study was to assess the value of fetal skeletal radiographs in determining the etiology of fetal death. A total of 1193 post-mortem fetal skeletal radiographs were analysed. Fetuses were classified into one of three groups (group I: abnormality diagnosed during pregnancy; group II: maternal pathology; group III: spontaneous abortion of pregnancy, IIIa before 26 weeks of gestation (WG), IIIb after 26 weeks of gestation). Face, supine and lateral skeletal views were performed. Skeletal abnormalities were detected in 33.9% of the fetuses, including 22.7% with minor abnormalities (abnormal rib number, no nasal bone ossification, amesophalangia or P2 hypoplasia of the fifth digit) and 14.5% with major abnormalities (other skeletal abnormalities). Among the fetuses with major abnormalities, 98.8% came from group I, 2.9% came from group II, 2.3% came from group IIIa and none came from group IIIb. Fetal skeletal radiographs are not useful in fetuses arising from spontaneous abortion of pregnancy without abnormality on ultrasound screening, abnormality clinical examination or in fetuses with prenatal diagnosis of chromosomal abnormality. This practice is valuable only if there is a multidisciplinary team, with all the participants (pathologists, radiologists, geneticists) knowledgeable about fetal pathology. In the absence of this multidisciplinary approach, it is easier to X-ray all fetuses to avoid misdiagnosis and the important consequences for genetic counselling.

Linear insertion of atrioventricular valves without septal defect: a new anatomical landmark for Down's syndrome?

Our objective was to explore whether minor anatomical abnormalities of the septal insertion of tricuspid and mitral valves could be a feature of trisomy 21 in fetuses with an otherwise normal heart. Postmortem examinations were performed in 41 fetuses affected by Down's syndrome and in 52 controls. Adjoining the standard postmortem procedure, an apex-to-base section of the crux of the heart was made on a plane corresponding to the sonographic four-chamber view. This allowed gross and histological examination of the hinge points of tricuspid and mitral leaflets, showing the usual apical displacement of the tricuspid valve in all controls. Of 41 fetuses affected by Down's syndrome, 18 had a structural heart defect. Of the 23 Down syndrome fetuses without a patent heart defect, 16 (i.e., 69% of those considered as having 'normal hearts') had nevertheless a linear insertion of atrioventricular valves at autopsy. Prospective clinical studies are required to evaluate if these postmortem findings can be transposed to the clinical setting of 2nd-trimester sonographic screening.

Postmortem assessment of fetal diaphyseal femoral length: validation of a radiographic methodology.

Depending on the general condition of fetal remains, forensic specialists might face difficulties concerning age estimation. Reference tables and regression equations are helpful devices in this task, although they are generally applied for complete fetuses or fetal remains including soft tissues. However, the problem of age estimation stays for osseous remains, both for entire bones and ossified parts, since most of the reference tables come from ultrasonographic measurements, which are not easily reproducible on fetal osseous remains. Furthermore, the ultrasonographic measurements contain slight errors in comparison to the real anatomical ones. This study describes a radiographic protocol and a measurement technique that facilitate and improve bone measurements, and therefore, facilitate age estimation, too. A qualitative criterion, namely a clear-cut bony endplate, was defined and tested. Its reliability (repeatability and reproducibility) turned out to be good, showing nonsignificative differences to the threshold of 0.05, with average errors of 0.26 and 0.44 mm respectively. Moreover, concerning the test of eventual size differences between the right and left femurs showed a P value < 0.0001. The test of the qualitative criterion was based on the comparison of the radiographic in situ femur measurements and the radiographic measurements of the same bones after dissection. The results were satisfactory, since an average error of 0.58 mm was obtained, which did not give any significant differences to the threshold of 0.05. It was concluded that this methodology provides an easy and precise new measurement tool for forensic practice, and can allow us to establish some nonultrasonographic tables, which fit our population.

[Ultrasonographically normal fetal heart]. / Coeur normal à l'échographie foetale.

The fetal heart must be systematically checked in routine ultrasonographic examination to detect any cardiac abnormality. The quality of the examination requires good knowledge of development and anatomy of the fetal heart. A complete examination will study inflow and outflow tracts: inflow tract on the four-chamber view, outflow tract by a static and dynamic study of the great arteries (on section in fetal axial and saggital planes). All cardiac abnormalities indicate the need for a fetal karyotype after a complete morphologic study. Atrioventricular septal defect (ASD) for Down's syndrome and malaligment septal defect of cono-truncal pathology are both excellent signs of chromosome abnormality. Special attention must be paid to cardiac abnormalities without a prenatal diagnosis due to the prognosis risk: complete transposition and total abomalous venous connection. These cardiac abnormalities, as well as complex isolated congenital heart disease, require a cardiopediatric evaluation to determine prognosis and management strategy.

Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study.

OBJECTIVE: To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. MATERIALS AND METHODS: Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). RESULTS: We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). CONCLUSIONS: Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis.

Prenatal diagnosis of left ventricular aneurysm: a report of three cases and a review.

We report three cases of left ventricular aneurysm diagnosed prenatally and followed by fetal Doppler echocardiography. A review of the literature reveals a paucity of information about this rare cardiac malformation. Most of the described cases (6 out of 9) have remained asymptomatic during pregnancy and after birth. Our cases, in contrast, and three others in the literature, had an ominous prognosis presenting cardiac failure initially or during follow up and showing a dynamic evolution of the aneurysm. Cross-sectional echocardiography provides the diagnosis, revealing the thin-walled aneurysm, usually apical, to be connected by a broad neck to the left ventricle. Color and pulsed Doppler shows low velocity and to-and-fro flow in the aneurysm. Sequential fetal Doppler echocardiography detects the potential growth of the aneurysm relative to ventricular size, revealing any compromise of cardiac performance by a decreased mitral opening, reversed atrial shunting, a hypokinetic infero-posterior left ventricular wall, and a poor systolic thickening of the wall of the aneurysm. Compromise of cardiac function, and deleterious impact on development of the lungs during fetal life, may depend on the early onset, growth and location of the aneurysm,which may occupy most of the fetal chest. We discuss issues of prenatal diagnosis, sequential surveillance of the natural history, and factors of prognosis as well as myocardial histological data from one of our cases.

Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.

We report two fetuses with congenital bowing of the long bones. Clinical and radiological features led us to consider two conditions: the Stüve-Wiedemann syndrome and the neonatal Schwartz-Jampel syndrome type 2. Similarities between the two syndromes are discussed.

Prenatal ultrasonographic findings in Proteus syndrome.

Proteus syndrome, a disorder which consists of skeletal, hamartomatous and other mesodermal malformations proves to be tremendously variable. Although most of the patients show deformities at birth, the diagnosis is usually made later in life as the phenotype develops over time. We report on the case of a fetus presenting in utero, with a cystic abdominal mass and malposition of the fingers, which was found to have additional features of Proteus syndrome after termination of pregnancy. This case demonstrates that severe cases of Proteus syndrome can be detected prenatally.

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.

[Fetal thymic hypoplasia diagnosed after interruption of pregnancy for HIV infection treated with tritherapy]. / Hypoplasie thymique foetale diagnostiquée après interruption de grossesse pour infection à VIH traitée par trithérapie.

We report an autopsy case of a malformed fetus with thymic hypoplasia. The autopsy was performed after therapeutic termination in the second trimester of pregnancy. The HIV-1 infected mother had received 3 antiviral agents and treatment for opportunistic infections.