An approach designed to fail deaf children and their parents and how to change it.

The matter of raising and educating deaf children has been caught up in percepts of development that are persistently inaccurate and at odds with scientific research. These percepts have negatively impacted the health and quality of life of deaf children and deaf people in general. The all too prevalent advice is to raise the child strictly orally and wait to see what happens. Only when the child is seriously behind is a completely accessible language - a sign language - introduced, and that is far too late for protecting cognitive health. The medical profession, along with others, needs to offer parents better advice and better supports so that neither the children nor their parents wait and watch as the oral-only method fails. All must take responsible action to assure an approach that succeeds.

Deaf Children Need Rich Language Input from the Start: Support in Advising Parents.

Bilingual bimodalism is a great benefit to deaf children at home and in schooling. Deaf signing children perform better overall than non-signing deaf children, regardless of whether they use a cochlear implant. Raising a deaf child in a speech-only environment can carry cognitive and psycho-social risks that may have lifelong adverse effects. For children born deaf, or who become deaf in early childhood, we recommend comprehensible multimodal language exposure and engagement in joint activity with parents and friends to assure age-appropriate first-language acquisition. Accessible visual language input should begin as close to birth as possible. Hearing parents will need timely and extensive support; thus, we propose that, upon the birth of a deaf child and through the preschool years, among other things, the family needs an adult deaf presence in the home for several hours every day to be a linguistic model, to guide the family in taking sign language lessons, to show the family how to make spoken language accessible to their deaf child, and to be an encouraging liaison to deaf communities. While such a support program will be complicated and challenging to implement, it is far less costly than the harm of linguistic deprivation.

Global Regulatory Review Needed for Cochlear Implants: A Call for FDA Leadership.

INTRODUCTION: Using the United States Food and Drug Administration (FDA) as example, we argue that regulatory agencies worldwide should review their guidance on cochlear implants (CIs). METHODS: This is a position paper, thus the methods are strictly argumentation. Here we give the motivation for our recommendation. The FDA's original approval of implantation in prelingually deaf children was granted without full benefit of information on language acquisition, on childcaregiver communication, and on the lived experience of being deaf. The CI clinical trials, accordingly, did not address risks of linguistic deprivation, especially when the caregiver's communication is not fully accessible to the prelingually deaf child. Wide variability in the effectiveness of CIs since initial and updated approval has been indicated but has not led to new guidance. Children need to be exposed frequently and regularly to accessible natural language while their brains are still plastic enough to become fluent in any language. For the youngest infants, who are not yet producing anything that could be called language although they might be producing salient social signals (Goldstein et al. Child Dev 80:636-644, 2009), good comprehension of communication from caregiver to infant is critical to the development of language. Sign languages are accessible natural languages that, because they are visual, allow full immersion for deaf infants, and they supply the necessary support for this comprehension. The main language contributor to health outcomes is this combination of natural visual language and comprehension in communication. Accordingly, in order to prevent possible language deprivation, all prelingually deaf children should be exposed to both sign and spoken languages when their auditory status is detected, with sign language being critical during infancy and early childhood. Additionally, all caregivers should be given support to learn a sign language if it is new to them so that they can comprehend their deaf children's language expressions fully. However, both languages should be made accessible in their own right, not combined in a simultaneous or total communication approach since speaking one language and signing the other at the same time is problematic. RESULTS: Again, because this is a position paper, our results are our recommendations. We call for the FDA (and similar agencies in other countries) to review its approval of cochlear implantation in prelingually deaf children who are within the sensitive period for language acquisition. In the meantime, the FDA should require manufacturers to add a highlighted warning to the effect that results with CI vary widely and CIs should not be relied upon to provide adequate auditory input for complete language development in all deaf children. Recent best information on users' experience with CIs (including abandonment) should be clearly provided so that informed decisions can be made. The FDA should require manufacturers' guidance and information materials to include encouragement to parents of deaf children to offer auditory input of a spoken language and visual input of a sign language and to have their child followed closely from birth by developmental specialists in language and cognition. In this way parents can align with providers to prioritize cognitive development and language access in both audio-vocal and visuo-gestural modalities. DISCUSSION: The arguments and recommendations in this paper are discussed at length as they come up.

Support for parents of deaf children: Common questions and informed, evidence-based answers.

To assist medical and hearing-science professionals in supporting parents of deaf children, we have identified common questions that parents may have and provide evidence-based answers. In doing so, a compassionate and positive narrative about deafness and deaf children is offered, one that relies on recent research evidence regarding the critical nature of early exposure to a fully accessible visual language, which in the United States is American Sign Language (ASL). This evidence includes the role of sign language in language acquisition, cognitive development, and literacy. In order for parents to provide a nurturing and anxiety-free environment for early childhood development, signing at home is important even if their child also has the additional nurturing and care of a signing community. It is not just the early years of a child's life that matter for language acquisition; it's the early months, the early weeks, even the early days. Deaf children cannot wait for accessible language input. The whole family must learn simultaneously as the deaf child learns. Even moderate fluency on the part of the family benefits the child enormously. And learning the sign language together can be one of the strongest bonding experiences that the family and deaf child have.

Discourses of prejudice in the professions: the case of sign languages.

There is no evidence that learning a natural human language is cognitively harmful to children. To the contrary, multilingualism has been argued to be beneficial to all. Nevertheless, many professionals advise the parents of deaf children that their children should not learn a sign language during their early years, despite strong evidence across many research disciplines that sign languages are natural human languages. Their recommendations are based on a combination of misperceptions about (1) the difficulty of learning a sign language, (2) the effects of bilingualism, and particularly bimodalism, (3) the bona fide status of languages that lack a written form, (4) the effects of a sign language on acquiring literacy, (5) the ability of technologies to address the needs of deaf children and (6) the effects that use of a sign language will have on family cohesion. We expose these misperceptions as based in prejudice and urge institutions involved in educating professionals concerned with the healthcare, raising and educating of deaf children to include appropriate information about first language acquisition and the importance of a sign language for deaf children. We further urge such professionals to advise the parents of deaf children properly, which means to strongly advise the introduction of a sign language as soon as hearing loss is detected.

Should All Deaf Children Learn Sign Language?

Every year, 10,000 infants are born in the United States with sensorineural deafness. Deaf children of hearing (and nonsigning) parents are unique among all children in the world in that they cannot easily or naturally learn the language that their parents speak. These parents face tough choices. Should they seek a cochlear implant for their child? If so, should they also learn to sign? As pediatricians, we need to help parents understand the risks and benefits of different approaches to parent-child communication when the child is deaf [corrected].

Bilingualism: A Pearl to Overcome Certain Perils of Cochlear Implants.

Cochlear implants (CI) have demonstrated success in improving young deaf children's speech and low-level speech awareness across a range of auditory functions, but this success is highly variable, and how this success correlates to high-level language development is even more variable. Prevalence on the success rate of CI as an outcome for language development is difficult to obtain because studies vary widely in methodology and variables of interest, and because not all cochlear implant technology (which continues to evolve) is the same. Still, even if the notion of treatment failure is limited narrowly to those who gain no auditory benefit from CI in that they cannot discriminate among ambient noises, the reported treatment failure rate is high enough to call into question the current lack of consideration of alternative approaches to ensure young deaf children's language development. Recent research has highlighted the risks of delaying language input during critical periods of brain development with concomitant consequences for cognitive and social skills. As a result, we propose that before, during, and after implantation deaf children learn a sign language along with a spoken language to ensure their maximal language development and optimal long-term developmental outcomes.

The right to language.

We argue for the existence of a state constitutional legal right to language. Our purpose here is to develop a legal framework for protecting the civil rights of the deaf child, with the ultimate goal of calling for legislation that requires all levels of government to fund programs for deaf children and their families to learn a fully accessible language: a sign language.

Language acquisition for deaf children: Reducing the harms of zero tolerance to the use of alternative approaches.

Children acquire language without instruction as long as they are regularly and meaningfully engaged with an accessible human language. Today, 80% of children born deaf in the developed world are implanted with cochlear devices that allow some of them access to sound in their early years, which helps them to develop speech. However, because of brain plasticity changes during early childhood, children who have not acquired a first language in the early years might never be completely fluent in any language. If they miss this critical period for exposure to a natural language, their subsequent development of the cognitive activities that rely on a solid first language might be underdeveloped, such as literacy, memory organization, and number manipulation. An alternative to speech-exclusive approaches to language acquisition exists in the use of sign languages such as American Sign Language (ASL), where acquiring a sign language is subject to the same time constraints of spoken language development. Unfortunately, so far, these alternatives are caught up in an "either - or" dilemma, leading to a highly polarized conflict about which system families should choose for their children, with little tolerance for alternatives by either side of the debate and widespread misinformation about the evidence and implications for or against either approach. The success rate with cochlear implants is highly variable. This issue is still debated, and as far as we know, there are no reliable predictors for success with implants. Yet families are often advised not to expose their child to sign language. Here absolute positions based on ideology create pressures for parents that might jeopardize the real developmental needs of deaf children. What we do know is that cochlear implants do not offer accessible language to many deaf children. By the time it is clear that the deaf child is not acquiring spoken language with cochlear devices, it might already be past the critical period, and the child runs the risk of becoming linguistically deprived. Linguistic deprivation constitutes multiple personal harms as well as harms to society (in terms of costs to our medical systems and in loss of potential productive societal participation).

Deaf in the time of the cochlea.

The American Deaf community for several decades has been involved in sometimes complicated and often contested ways of defining what it means to be Deaf. It is our thesis that the processes of identity construction and the recent discourse of Deaf identity are not unique phenomena at all but echo the experience of other embedded cultural groups around the world, particularly those that are stressed by the assertion of hegemony over them by others. We turn to 2 particular theorists, Jose Martí and W. E. B. DuBois, to help us understand both the dilemmas that Deaf people face and the possible solutions that they propose. This article argues that identities are constructed not just within Deaf communities but within the social contexts in which Deaf communities are embedded.

Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319.

Reading disabilities (RDs) have been associated with chromosome 6p with recent studies pointing to two genes, DCDC2 and KIAA0319. In this study, markers across the 6p region were tested for association with RD. Our strongest findings were for association with markers in KIAA0319, although with the opposite alleles compared with a previous study. We also found association with markers in VMP, but not with DCDC2. Current evidence indicates that differential regulation of KIAA0319 and DCDC2 contributes to RD, thus we used chromatin immunoprecipitation coupled with genomic tiling arrays (ChIP-chip) to map acetylated histones, a molecular marker for regulatory elements, across a 500 kb genomic region covering the RD locus on 6p. This approach identified several regions marked by acetylated histones that mapped near associated markers, including intron 7 of DCDC2 and the 5' region of KIAA0319. The latter is located within the 70 kb region previously associated with differential expression of KIAA0319. Interestingly, five markers associated with RD in independent studies were also located within the 2.7 kb acetylated region, and six additional associated markers, including the most significant one in this study, were located within a 22 kb haplotype block that encompassed this region. Our data indicates that this putative regulatory region is a likely site of genetic variation contributing to RD in our sample, further narrowing the candidate region.

The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities.

A locus on chromosome 1p34-36 (DYX8) has been linked to developmental dyslexia or reading disabilities (RD) in three independent samples. In the current study, we investigated a candidate gene KIAA0319-Like (KIAA0319L) within DYX8, as it is homologous to KIAA0319, a strong RD candidate gene on chromosome 6p (DYX2). Association was assessed by using five tagging single nucleotide polymorphisms in a sample of 291 nuclear families ascertained through a proband with reading difficulties. Evidence of association was found for a single marker (rs7523017; P=0.042) and a haplotype (P=0.031), with RD defined as a categorical trait in a subset of the sample (n=156 families) with a proband that made our criteria for RD. The same haplotype also showed evidence for association with quantitative measures of word-reading efficiency (i.e., a composite score of word identification and decoding; P=0.032) and rapid naming of objects and colors (P=0.047) when analyzed using the entire sample. Although the results from the current study are modestly significant and would not withstand a correction for multiple testing, KIAA0319L remains an intriguing positional and functional candidate for RD, especially when considered alongside the supporting evidence for its homolog KIAA0319 on chromosome 6p. Additional studies in independent samples are now required to confirm these findings.

The toposome, essential for sea urchin cell adhesion and development, is a modified iron-less calcium-binding transferrin.

We describe the structure and function of the toposome, a modified calcium-binding, iron-less transferrin, the first member of a new class of cell adhesion proteins. In addition to the amino acid sequence of the precursor, we determined by Edman degradation the N-terminal amino acid sequences of the mature hexameric glycoprotein present in the egg as well as that of its derived proteolytically modified fragments necessary for development beyond the blastula stage. The approximate C-termini of the fragments were determined by a combination of mass spectrometry and migration in reducing gels before and after deglycosylation. This new member of the transferrin family shows special features which explain its evolutionary adaptation to development and adhesive function in sea urchin embryos: (i) a protease-inhibiting WAP domain, (ii) a 280 amino acid cysteine-less insertion in the C-terminal lobe, and (iii) a 240 residue C-terminal extension with a modified cystine knot motif found in multisubunit external cell surface glycoproteins. Proteolytic removal of the N-terminal WAP domain generates the mature toposome present in the oocyte. The modified cystine knot motif stabilizes cell-bound trimers upon Ca-dependent dissociation of hexamer-linked cells. We determined the positions of the developmentally regulated cuts in the cysteine-less insertion, which produce the fragments observed previously. These fragments remain bound to the hexameric 22S particle in vivo and are released only after treatment of the purified toposome with reducing agents. In addition, some soluble smaller fragments with possible signal function are produced. Sequence comparison of five sea urchin species reveals the location of the cell-cell contact site targeted by the species-specific embryo dissociating antibodies. The evolutionary tree of 2-, 1-, and 0-ferric transferrins implies their evolution from a basic cation-activated allosteric design modified to serve multiple functions.

Efficacy of very high dose steroid treatment in a case of Landau-Kleffner syndrome.

Landau-Kleffner syndrome (LKS) is an acquired childhood aphasia associated with paroxysmal bitemporal electroencephalogram (EEG) abnormalities and, sometimes, clinical seizures. We report the case of a female aged 5 years 6 months who presented clinically with apparent hearing loss, deterioration in speech, and seizure activity over 12 days. The female had previous detailed speech/language assessments at 3 to 4 years of age due to articulation delay. LKS was diagnosed on EEG with bitemporal spike and wave activity during sleep. The patient was treated with high dose prednisolone 3mg/kg/day, intensive speech/language therapy, and followed a modified educational program. We recorded a marked regression in receptive and expressive language skills, as well as her speech, language, and cognitive profiles before and during treatment with prednisolone, during an 18-month follow-up period. The patient demonstrated an excellent clinical response highlighting the importance of a multidisciplinary approach to management of LKS.

A pilot study of the effect of Direct Instruction programming on the academic performance of students with intractable epilepsy.

Fifty-five students with intractable epilepsy and learning difficulties, aged 6.5 to 14.1 years with a mean IQ of 71.25 (SD=13.56), attended a hospital-based classroom of no more than eight students where they received Direct Instruction programming for 3 to 4.5 days a week, typically for up to 16 weeks. Pretest-posttest academic gains were evaluated in comparison to normative test performance. At pretest the students were achieving below test means in reading and mathematics, particularly in calculation. Direct Instruction was associated with significant improvement in all academic areas except word identification in reading. IQ level was related to certain academic gains, but gains were not associated with seizure variables or the number of days students spent in the program. Despite severe learning difficulties, students with intractable epilepsy can make academic gains when taught by highly structured teaching methods such as Direct Instruction.

Narrative comprehension and retelling abilities of children with nonverbal learning disabilities.

Nonverbal learning disabilities (NLD) are characterized by weaknesses in narrative discourse. Thirty-three children (M ag e= 11.7 years), 15 girls and 18 boys, listened to stories to evaluate their narrative comprehension and retelling abilities. Children with NLD (n = 11) performed as poorly as children with verbal impairment (n = 10) on all narrative measures. Compared to typical controls (n = 12), the NLD group was poorer in comprehending inferences, but not facts. They included less of the original content than controls in their story retells, and there were strong trends suggesting fewer utterances and less variety in their vocabulary usage. Results are discussed regarding their implications for understanding the neuropsychological profile of NLD.

Listening comprehension and working memory are impaired in attention-deficit hyperactivity disorder irrespective of language impairment.

This study investigated listening comprehension and working memory abilities in children with attention-deficit hyperactivity disorder (ADHD), presenting with and without language impairments (LI). A 4-group design classified a community sample (n = 77) of boys aged 9-12 into ADHD, ADHD + LI, LI, and Normal groups. Children completed tests of basic language and cognitive skills, verbal and spatial working memory, and passage-level listening comprehension. Multivariate analyses and post hoc comparisons indicated that ADHD children who did not have co-occurring LI comprehended factual information from spoken passages as well as normal children, but were poorer at comprehending inferences and monitoring comprehension of instructions. ADHD children did not differ from normal children in verbal span, but showed significantly poorer verbal working memory, spatial span, and spatial working memory. The ADHD + LI and LI groups were most impaired in listening comprehension and working memory performance, but did not differ from each other. Listening comprehension skills were significantly correlated with both verbal and spatial working memory, and parent-teacher ratings of inattention and hyperactivity/impulsivity. Findings that children with ADHD but no LI showed subtle higher-level listening comprehension deficits have implications for both current diagnostic practices and conceptualizations of ADHD.