Should Echolalia Be Considered a Phonic Stereotypy? A Narrative Review.

The Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) defines echolalia as a pathological, parrotlike, and apparently senseless repetition (echoing) of a word or phrase just uttered by another person and classifies this condition among the "restrictive and repetitive behaviours" of Autism Spectrum Disorder (ASD). The authors reviewed the existing literature on echolalia and its role in the development of children with ASD. Current conceptualizations include echolalia among repetitive behaviors and stereotypies and thus interpret this symptom as lacking any communicative significance, with negative effects on learning and sensory processing. Echoic behaviors, however, have been described in neurotypical infants and children as having a substantial effect on the consequent development of language and communication. Relevant research has documented a functional role of echolalia in ASD children as well since it facilitates the acquisition of verbal competencies and affords a higher degree of semantic generalization. This developmental function could be restricted to specific contexts. Considering echolalia as stereotypy and treating it as a disturbing symptom could impair the development of ASD-specific learning and communication processes. In light of this evidence, the authors propose a different conceptualization of echolalia and suggest that this symptom be considered among atypical communication patterns in children with ASD, with implications for treatment and prognosis.

Phonic and Motor Stereotypies in Autism Spectrum Disorder: Video Analysis and Neurological Characterization.

Stereotypies are among the core symptoms of Autism spectrum disorder (ASD) and can cause significant clinical impairment. At present, phonic stereotypies in ASD have been scarcely explored. This study investigates the frequency, variability, and typologies of phonic and motor stereotypies in children with ASD and their association with clinical neurological variables. We examined 35 patients by recording standardized video sessions and administering the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Phonic stereotypies were present in 83.0% of the patients. The most prevalent subtypes were noncommunicative vocalizations (60.0%), single syllables (37.1%), and echolalic stereotypies (22.9%). Noncommunicative vocalizations were more frequent in nonverbal patients (OR = 4.629, p = 0.008), while echolalic stereotypies were more represented in verbal patients (OR = 0.279, p = 0.028). Patients with intellectual disability (ID) showed a higher number (F(1,26) = 9.406, p = 0.005) and variability (F(1,25) = 7.174, p = 0.013) of motor stereotypies, with a higher number (F(1,26) = 13.268, p = 0.005) and variability (F(1,26) = 9.490, p = 0.005) of stereotypies involving the head/trunk/shoulders category. Patients with guttural stereotypies showed a higher variability of total motor stereotypies (OR = 1.487, p = 0.032) and self-directed motor stereotypies (OR = 4.389, p = 0.042). These results, combined with a standardized video-analysis, document the frequency and variability of phonic stereotypies among children with ASD. Correlations between specific phonic stereotypies and verbal abilities should be investigated further.

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin-girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2 Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART-conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long-term follow-up of children conceived using ART.